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| Resource Name | Proper Citation | Abbreviations | Resource Type |
Description |
Keywords | Resource Relationships | |||||||||||||
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Group Level Imputation of Statistic Maps Resource Report Resource Website |
Group Level Imputation of Statistic Maps (RRID:SCR_002397) | Group Level Imputation of Statistic Maps | software toolkit, software resource | A software toolkit that performs multiple imputation for group level, single sample t-tests. Whole brain group level statistic maps from fMRI rarely cover the entire brain as a result of missing data. Missingness between subjects in fMRI datasets can result from susceptibility artifacts, bounding box (acquisition parameters), and small differences in post-normalized morphology. The toolkit consists of several interactive command line scripts that guide the user to map the spatial distribution of missing data across contrast images, calculate spatial neighborhood averages that help impute values, perform conventional and multiple imputed t-statistics, save the results to brain maps, and create result tables. The toolkit contains an instruction manual (pdf), two Matlab scripts and one R-Statistics script, which depend on functions defined in the popular SPM toolbox and functions defined in the MICE package for (R). | magnetic resonance, imputation, t-test, fmri | is listed by: NeuroImaging Tools and Resources Collaboratory (NITRC) | Free, Available for download, Freely available | nlx_155768 | SCR_002397 | 2026-08-15 11:29:40 | 0 | ||||||||
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PEDHUNTER Resource Report Resource Website 1+ mentions |
PEDHUNTER (RRID:SCR_002031) | PedHunter | software application, software resource | Software package that facilitates creation and verification of pedigrees within large genealogies. The pedigrees are produced as files in LINKAGE format ready for linkage analysis and for drawing with a variety of drawing programs, such as PEDDRAW and cranefoot. | gene, genetic, genomic, genealogy, pedigree, bio.tools |
is listed by: OMICtools is listed by: Genetic Analysis Software is listed by: bio.tools is listed by: Debian has parent organization: NCBI |
PMID:20433770 PMID:9521925 |
THIS RESOURCE IS NO LONGER IN SERVICE | biotools:pedhunter, OMICS_00211, nlx_154518 | https://bio.tools/pedhunter | SCR_002031 | 2026-08-15 11:29:37 | 2 | ||||||
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LAMP Resource Report Resource Website 1000+ mentions |
LAMP (RRID:SCR_001740) | LAMP | software application, software resource | Software for linkage and association modeling in pedigrees that uses a maximum likelihood model to extract information on genetic linkage and association from samples of unrelated individuals, sib pairs, trios and larger pedigrees (Li et al, 2005; Li et al, 2006). It provides estimates of genetic model parameters and powerful tests of association in settings where population stratification is not a concern. | gene, genetic, genomic, c++, unix, linux, windows, macos, linkage, association, modeling, pedigree |
is listed by: Genetic Analysis Software has parent organization: University of Michigan; Ann Arbor; USA |
PMID:16642434 | Free, Available for download, Freely available | nlx_154103 | SCR_001740 | Linkage and Association Modeling in Pedigrees | 2026-08-15 11:29:39 | 1166 | ||||||
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Acute Liver Failure Study Group Resource Report Resource Website |
Acute Liver Failure Study Group (RRID:SCR_001463) | ALFSG | biomaterial supply resource, material resource | Clinical research network for gathering prospective data and bio-samples on acute liver failure in adults since 1998. Clinical histories and laboratory and outcome data are available. Sample types include serum, plasma, urine, DNA, and liver tissue. | clinical network, research network, adult acute liver failure |
is listed by: One Mind Biospecimen Bank Listing is listed by: NIDDK Information Network (dkNET) is related to: Pediatric Acute Liver Failure Study has parent organization: University of Texas Southwestern Medical Center; Texas; USA |
Acute liver failure, Acute liver injury | NIDDK 2U01DK058369 | PMID:19524577 | Free, Freely Available | nlx_152690 | http://www8.utsouthwestern.edu/utsw/cda/dept25203/files/89624.html | SCR_001463 | Acute Liver Failure Study Group (ALFSG), UT Southwestern Acute Liver Failure Study Group, Adult Acute Liver Failure Study Group | 2026-08-15 11:29:39 | 0 | |||
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SYZYGY Resource Report Resource Website 1+ mentions |
SYZYGY (RRID:SCR_002157) | Syzygy | software application, software resource | A targeted sequencing post processing analysis software tool that allows: 1. SNP and indel detection; 2. Allele frequency estimation; 3. Single-marker association test; 4. Group-wise marker test association; 5. Experimental QC summary (%dbSNP, Ts/Tv, Ns/S); 6. Power to detect variant. (entry from Genetic Analysis Software) | gene, genetic, genomic, variant calling, snp, indel, allele frequency, single-marker association, group-wise marker, quality control, variant |
is listed by: OMICtools is listed by: Genetic Analysis Software has parent organization: Broad Institute |
PMID:21983784 | THIS RESOURCE IS NO LONGER IN SERVICE | nlx_154668, OMICS_02166 | SCR_002157 | Syzygy - SNP and indel calling for pooled and individual targeted resequencing studies | 2026-08-15 11:29:37 | 5 | ||||||
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Australia Breast Cancer Tissue Bank Resource Report Resource Website |
Australia Breast Cancer Tissue Bank (RRID:SCR_000926) | ABCTB | biomaterial supply resource, material resource | A tissue bank which houses and supplies cancerous tissue for use by the research community. Along with tissue, the bank collects clinical history, lifestyle factors, breast pathology, treatment information, and follow up information. | cancer, tissue bank, breast, tissue, human, clinical history, treatment information, pathology | Cancer | National Health and Medical Research Council of Australia ; National Breast Cancer Foundation ; Cancer Institute of NSW |
THIS RESOURCE IS NO LONGER IN SERVICE | nlx_54620 | SCR_000926 | 2026-08-15 11:29:26 | 0 | |||||||
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Biositemaps Resource Report Resource Website 1+ mentions |
Biositemaps (RRID:SCR_001976) | Biositemaps | service resource, software resource | THIS RESOURCE IS NO LONGER IN SERVICE. Documented on April 27,2023. Biositemaps represent a mechanism for computational biologists and bio-informaticians to openly broadcast and retrieve meta-data about biomedical data, tools and services (i.e., biomedical resources) over the Internet. All Institutions with an interest in biomedical research can publish a biositemap.rdf file on their Internet site. The technology, developed by the Biositemaps Working Group of the NIH Roadmap National Centers of Biomedical Computing (NCBC), addresses (i) locating, (ii) querying, (iii) composing or combining, and (iv) mining biomedical resources. Each site which intends to contribute to the inventory instantiates a file on its Internet site biositemap.rdf which conforms to a defined RDF schema and uses concepts from the Biomedical Resource Ontology to describe the resources. Each biositemap.rdf file is simply a list of controlled metadata about resources (software tools, databases, material resources) that your organization uses or believes are important to biomedical research. The key enabling technologies are the Information Model (IM) which is the list of metadata fields about each resource (resource_name, description, contact_person, resource_type,...) and the Biomedical Resource Ontology (BRO) which is a controlled terminology for the resource_typeand which is used to improve the sensitivity and specificity of web searches. Biositemaps blend the features of Sitemaps (enabling efficient web-content exploration) and RSS Feeds (a mechanism for wide and effective news dissemination). As a hybrid between Sitemaps and RSS feeds, the Biositemap infrastructure facilitates a decentralized, portable, extensible and computationally tractable generation and consumption of meta-data about existent, revised and new resources for biomedical computation. Web browsers, crawlers and robots can discover, accumulate, process, integrate and deliver Biositemaps content to (human or machine) users in a variety of graphical, tabular, computational formats. Biositemaps content allows such web browsers to pool resource-associated metadata from disparate and diverse sites and present it to the user in an integrated fashion. The Biositemaps protocol provides clues, information and directives for all Biositemap web harvesters that point to the existence and content of such biomedical resources at different sites. | broadcast, data federation, defined rdf schema, infrastructure, meta-data, rdf, retrieve, biomedical, biositemap, sitemap |
lists: Adaptively Sampled Particle Fluids lists: DicomWorks lists: MEDx lists: Medical Image Processing and Visualization lists: Surface-Based Atlases lists: RESNET lists: SurfRelax lists: FEATURE lists: Cardiovascular Model Repository lists: Simtk.org lists: ConTrack lists: Allopathfinder lists: Molecular Simulation Trajectories Archive of a Villin Variant lists: BioPortal lists: SumsDB lists: NeuronDB lists: BrainInfo lists: Protege lists: i2b2 Cross-Institutional Clinical Translational Research project lists: GeneChip Operating Software lists: Honig Lab lists: Proteomics Identifications (PRIDE) lists: ASAP: the Alternative Splicing Annotation Project lists: MiMI Plugin for Cytoscape lists: Substructure Index-based Approximate Graph Alignment lists: Proteome Commons Tranche repository lists: caTIES - Cancer Text Information Extraction System lists: REDCap lists: miniTUBA lists: Einstein-Montefiore ICTR Research Informatics Core lists: T-profiler lists: Stanford Translational Research Integrated Database Environment and Clinical Data Warehouse lists: GCG/SeqWeb lists: Solstice lists: California National Primate Research Center lists: BioGPS: The Gene Portal Hub lists: Blox lists: Subcellular Location Image Finder lists: PeptideAtlas lists: Clair library lists: Lyngby lists: SimTKCore lists: Velos lists: Ingenuity Pathway Analysis lists: Philips lists: Talktech lists: SUN Interface Engine lists: Quadramed - Medicus, Quantim lists: Wisconsin National Primate Research Center lists: i2b2 Research Data Warehouse lists: Merge Healthcare Incorporated lists: Clinical Trial Management Application lists: Cerner Millenium lists: Open Clinical Report Repository lists: Quovadx, Inc. lists: VectorValuedHistogramNormalizer lists: Morphometry BIRN lists: Talairach Daemon lists: LONI Visualization Tool lists: LONI Debabeler lists: LONI Pipeline Processing Environment lists: Brede Wiki lists: medInria lists: FreeSurfer lists: ITK-SNAP lists: VoxBo lists: Ensembl lists: MRIcron lists: Synchronized Histological Image Viewing Architecture lists: LONI ShapeViewer lists: LONI ShapeTools lists: FFT Library lists: NUTMEG lists: bioDBcore lists: Mutant Mouse Resource and Research Center lists: Brainscape lists: MindSeer lists: University of Southern California LONI Software lists: Statistics Online Computational Resource lists: NIH MRI Study of Normal Brain Development lists: Ontology Development and Information Extraction lists: Mindtouch DekiWiki lists: National Mesothelioma Virtual Bank lists: MGH-USC Human Connectome Project lists: Fusion ICA Toolbox lists: Biomedical Resource Ontology lists: Biomedical Informatics Research Network lists: 3D Slicer lists: Analysis of Functional NeuroImages lists: Automated Image Registration lists: TOADS-CRUISE Brain Segmentation Tools lists: BrainImage Software lists: Brede Toolbox lists: Whole Brain Catalog lists: Low Resolution Electromagnetic Tomography lists: Cambridge Brain Activation lists: ModelDB lists: fMRI Data Center lists: EEGLAB lists: 3DViewnix lists: MIPAV: Medical Image Processing and Visualization lists: NeuroLens lists: WFU PickAtlas lists: Protein Subcellular Location Image Database lists: STRIDE Virtual Biospecimen Bank lists: BrainVoyager is related to: Biomedical Resource Ontology is related to: Software Distribution Sets is related to: REX is related to: Rat Genome Database (RGD) has parent organization: National Centers for Biomedical Computing has parent organization: National Institutes of Health is parent organization of: Resource Discovery System |
THIS RESOURCE IS NO LONGER IN SERVICE | nif-0000-10583 | SCR_001976 | 2026-08-15 11:29:40 | 1 | ||||||||
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World Federation for Culture Collections Resource Report Resource Website |
World Federation for Culture Collections (RRID:SCR_001974) | WFCC | biomaterial supply resource, material resource | THIS RESOURCE IS NO LONGER IN SERVICE. Documented on September 23,2022. Collects, authenticates, maintains and distributes cultures of microorganisms and cultured cells. Its aim is to promote and support the establishment of culture collections and related services, to provide liaison and set up an information network between the collections and their users, to organize workshops and conferences, publications and newsletters and work to ensure the long term perpetuation of important collections. The WFCC (through the activities of Professor Skerman, University of Queensland, Australia, and his colleagues in the 1960's) pioneered the development of an international database on culture resources worldwide. The result is the WFCC World Data Center for Microorganisms (WDCM). This data resource is now maintained at National Institute of Genetics (NIG), Japan and has records of nearly 476 culture collections from 62 countries. The records contain data on the organization, management, services and scientific interests of the collections. Each of these records is linked to a second record containing the list of species held. The WDCM database forms an important information resource for all microbiological activity and also acts as a focus for data activities among WFCC members. | microbe, microbial, microorganism, microorganism culture, cultured cell | is listed by: One Mind Biospecimen Bank Listing | International Union of Biological Sciences ; International Union of Microbiological Societies |
PMID:24430150 | THIS RESOURCE IS NO LONGER IN SERVICE | nif-0000-10555 | http://www.wfcc.info/home/ | SCR_001974 | 2026-08-15 11:29:27 | 0 | |||||
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CGSC Resource Report Resource Website 10+ mentions |
CGSC (RRID:SCR_002303) | CGSC | biomaterial supply resource, material resource | The CGSC Collection contains only non-pathogenic BSL-1 laboratory strains, primarily genetic derivatives of Escherichia coli K-12, the laboratory strain widely used in genetic and molecular studies, but a few B strains. The CGSC Database of E. coli genetic information includes genotypes and reference information for the strains in the CGSC collection, the names, synonyms, properties, and map position for genes, gene product information, and information on specific mutations and references to primary literature. The public version of the database includes this information and can be queried directly via this CGSC DB WebServer. The collection includes cultures of wild-type contributed from a number of laboratories and a few thousand derivatives carrying one or up to 29 mutations from among 3500 mutations in (or included in deletions spanning) more than 1300 different loci. Some combinations were constructed particularly for mapping purposes and are still used for teaching and for rapid localization, some for manifestation of a particular phenotype, some strains for transferring a particular region or for complementation analysis. Some plasmids, e.g., the Clarke and Carbon collection, F-primes, a number of toolkit plasmids, and a few classic plasmids are included, but it is not a comprehensive collection of plasmids. Additionally, we have recently acquired most of the strains from the Keio Collection of systematic individual gene knockout (deletion/kan insertion) strains. | e. coli. escherichia coli, chromosome, culture, genotype, interval, k-12, linkage map, locus, mutation, non-pathogenic, phenotype, plasmid, prokaryote, strain, wild-type, auxotrophic, amino acids, wanner lambda red, gene disruption, keio knockout |
is listed by: One Mind Biospecimen Bank Listing has parent organization: Yale University; Connecticut; USA |
NSF DBI-0742708; User fees |
nif-0000-21083 | SCR_002303 | The Coli Genetic Stock Center, E. coli Genetic Stock Center, CGSC - The Coli Genetic Stock Center, Coli Genetic Stock Center | 2026-08-15 11:29:40 | 27 | |||||||
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K Bar Livestock Resource Report Resource Website |
K Bar Livestock (RRID:SCR_000924) | biomaterial supply resource, material resource | A business that supplies livestock organisms and equipment to biomedical researchers and teachers. Examples of services include livestock such as sheep, goats, swine, and calves; materials such as blood, isolated tissue, feed, hay, equipment; and timed pregnancies and pre-delivery laboratory tests. | domestic, livestock, sheep, goat, calf, swine, pig, timed pregnancy, blood, isolated tissue, feed, hay equipment | Available to the research community, Available to the teaching community | nlx_52158 | SCR_000924 | K Bar Livestock LLC, K-Bar Livestock | 2026-08-15 11:29:39 | 0 | |||||||||
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HWESTRATA Resource Report Resource Website |
HWESTRATA (RRID:SCR_001097) | HWESTRATA | software application, software resource | THIS RESOURCE IS NO LONGER IN SERVICE. Documented on May 24,2023. Software application that calculates an exact stratified test for HWE for diallelic markers, such as single nucleotide polymorphisms (SNPs), and an exact test for homogeneity of Hardy Weinberg disequilbrium. In addition, exact tests for HWE are calculated for each stratum. (entry from Genetic Analysis Software) | gene, genetic, genomic, c, unix, solaris, ms-windows, (xp) | is listed by: Genetic Analysis Software | THIS RESOURCE IS NO LONGER IN SERVICE | nlx_154405 | SCR_001097 | 2026-08-15 11:29:26 | 0 | ||||||||
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BioCytex Resource Report Resource Website 50+ mentions |
BioCytex (RRID:SCR_001135) | biomaterial supply resource, material resource | A French biotech company that specializes in the development of standardized flow cytometry kits in the field of haemostasis. It became part of the Stago group in 1994. | biotech, flow cytometry, haeomostasis, french | nlx_152301 | SCR_001135 | 2026-08-15 11:29:39 | 52 | |||||||||||
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Acris Antibodies Resource Report Resource Website 1+ mentions |
Acris Antibodies (RRID:SCR_001095) | biomaterial supply resource, material resource | Commercial supplier of biomaterials such as antibodies, antigens, lysates, and various assay kits. | biomaterials, antibodies, antigens, lysates, assay, western blot | Commercial | nlx_152250 | SCR_001095 | Acris Antibodies Inc., Acris Antibodies GmbH | 2026-08-15 11:29:39 | 2 | |||||||||
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JENA: A Semantic Web Framework for Java Resource Report Resource Website 10+ mentions |
JENA: A Semantic Web Framework for Java (RRID:SCR_001766) | Jena | software toolkit, software resource | Java framework for building Semantic Web applications, it provides a collection of tools and Java libraries to help you to develop semantic web and linked-data apps, tools and servers. It provides extensive Java libraries for helping developers develop code that handles RDF, RDFS, RDFa, OWL and SPARQL in line with published W3C recommendations. Jena includes a rule-based inference engine to perform reasoning based on OWL and RDFS ontologies, and a variety of storage strategies to store RDF triples in memory or on disk. The Jena Framework includes: * an API for reading, processing and writing RDF data in XML, N-triples and Turtle formats; * an ontology API for handling OWL and RDFS ontologies; * a rule-based inference engine for reasoning with RDF and OWL data sources; * stores to allow large numbers of RDF triples to be efficiently stored on disk; * a query engine compliant with the latest SPARQL specification * servers to allow RDF data to be published to other applications using a variety of protocols, including SPARQL In April 2012, Jena graduated from the Apache incubator process and was approved as a top-level Apache project. | java, inference engine, semantic, software framework, semantic web, rdf, rdfs, rdfa, owl, sparql | Free, Available for download, Freely available | nif-0000-10271 | SCR_001766 | Apache Jena | 2026-08-15 11:29:37 | 13 | ||||||||
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GAS2 Resource Report Resource Website |
GAS2 (RRID:SCR_001126) | GAS2 | software application, software resource | Software application for evaluating Statistical Significance in Two-Stage Genomewide Association Studies (entry from Genetic Analysis Software) | gene, genetic, genomic, fortran77 | is listed by: Genetic Analysis Software | PMID:16408254 | nlx_154323 | SCR_001126 | statistical significance in Genomewide Association Studies in 2-stage | 2026-08-15 11:29:26 | 0 | |||||||
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EQTL EXPLORER Resource Report Resource Website 1+ mentions |
EQTL EXPLORER (RRID:SCR_001123) | EQTL EXPLORER | software application, software resource | THIS RESOURCE IS NO LONGER IN SERVICE. Documented on September 23,2022. An eQTL visualization tool that allows users to mine and understand data from a repository of genetical genomics experiments (entry from Genetic Analysis Software) | gene, genetic, genomic, java | is listed by: Genetic Analysis Software | PMID:16357031 | THIS RESOURCE IS NO LONGER IN SERVICE | nlx_154018 | SCR_001123 | 2026-08-15 11:29:36 | 2 | |||||||
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Corner Cube Environment Resource Report Resource Website |
Corner Cube Environment (RRID:SCR_001080) | software toolkit, image visualization software, software resource | THIS RESOURCE IS NO LONGER IN SERVICE. Documented on September 23,2022. DOCUMENTED NOVEMBER 17, 2016: This program was removed on 03/18/15 and is not being monitored.A software visualization package for the symbolic display of functional neuroimaging datasets in an anatomical context. Written in IDL. | visualization, symbolic display, functional neuroimaging, dataset, anatomy, idl | has parent organization: University of Minnesota Twin Cities; Minnesota; USA | PMID:9873900 | THIS RESOURCE IS NO LONGER IN SERVICE | nif-0000-00282 | http://neurovia.umn.edu/distrib/cce.html | SCR_001080 | 2026-08-15 11:29:26 | 0 | |||||||
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NGSUtils Resource Report Resource Website 10+ mentions |
NGSUtils (RRID:SCR_001236) | NGSUtils | software toolkit, software resource | A suite of software tools for analyzing and manipulating next-generation sequencing datasets, such as FASTQ, BED and BAM format files. These tools provide a stable and modular platform for data management and analysis. | mac os x, linux, next-generation sequencing, illumia, solid, 454, ion torrent, pac bio, sequencing, dna resequcing, rna resequcing, chip-seq, clip-seq, targeted resequencing, agilent exome capture, pcr targeting, dna, rna, mapping pipeline, python, bio.tools |
is listed by: OMICtools is listed by: bio.tools is listed by: Debian has parent organization: Indiana University School of Medicine; Indiana; USA |
PMID:23314324 | Free, Available for download, Freely available | biotools:ngsutils, OMICS_02104 | https://bio.tools/ngsutils | SCR_001236 | NGSUtils - Tools for next-generation sequencing analysis | 2026-08-15 11:29:37 | 40 | |||||
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TDT-PC Resource Report Resource Website |
TDT-PC (RRID:SCR_001116) | TDT-PC | software application, software resource | Software program to compute the statistical power of the Transmission/Disequilibrium Test (TDT) analytically, based on the most accurate asymptotic algorithms up to date, and is applicable in very general situations, where different parental disease status, multiple children, mixed family type and recombination events are considered. Routine algorithms for Monte Carlo simulations with significant improvements are also implemented in this program. (entry from Genetic Analysis Software) | gene, genetic, genomic, c++, ms-windows, ms-dos, unix, solaris, bio.tools |
is listed by: Genetic Analysis Software is listed by: bio.tools is listed by: Debian |
PMID:11443734 | nlx_154677, biotools:tdt_power_calculator | https://bio.tools/tdt_power_calculator | SCR_001116 | Transmission Disequilibrium Test Power Calculator, TDT Power Calculator | 2026-08-15 11:29:39 | 0 | ||||||
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Italian Rett Syndrome database Resource Report Resource Website 1+ mentions |
Italian Rett Syndrome database (RRID:SCR_002000) | Rett syndrome bank | biomaterial supply resource, material resource | Data and biospecimen from Rett Syndrome patients shared with the scientific community with the ability to visualize the list of available samples and select those with specific clinical and molecular features. It also contains information on biospecimen samples from x-linked retardation, microdeletion, duplication syndromes, autosomal MR, and retinoblastoma. The bank is active since 1998 and it is located in the Medical Genetics Unit, at the University Hospital of Siena. The bank is divided in three distinct sections: # Rett Syndrome. This section contains samples from patients affected by Rett syndrome, a neurodegenerative disease affecting almost exclusively girls with an estimated frequency of 1:10000-15000 live born. By accessing the section users can see a list of all patients available with their phenotype, the specific MECP2 or CDKL5 mutation if known and the kind of biological samples available for each patient. The availability of this large panel of patients is potentially important for the clarification of the molecular bases of Rett syndrome. In fact, a 20-30 of Rett cases do not have MECP2 or CDKL5 mutations. These patients might bear intronic/promoter MECP2 or CDKL5 mutations or they might have alterations in one or more genes different from MECP2 or CDKL5, as suggested by the identification of various chromosomal rearrangements. To confirm a causative role of these rearrangements, and to identify the relevant gene/s, it is important to collect a great number of patients in which to search for overlapping rearrangements or point mutations in candidate genes. # X-Linked Mental Retardation. This section contains samples collected by the centers belonging to the Italian network on X-linked mental retardation, which includes the laboratory of bank curators (for specific information on the network goals and organization, go to the section page). Mental retardation (MR) is the most frequent cause of serious handicap in humans with an estimated prevalence of 0,3-0,5 for moderate to severe MR (IQ<50) which increases to 1-1,5 when mild MR (IQ 50-70) is included. It is calculated that about 20-25 of mentally retarded males have a mutation in a gene on the X chromosome (X-linked mental retardation). X-linked mental retardation is a genetically heterogeneous condition. This is particularly true for the non-syndromic form (MRX), where MR is the only consistent clinical finding and no distinctive features between patients exist. In this situation the only possibility to group patients from different families is represented by linkage analysis, which needs the availability of large families. However, families linked to the same region demonstrate different causative genes. In these conditions, the number of patients available for analysis is a discriminating factor since a large number of patients need to be tested in order to fully confirm or exclude the involvement of a gene in MRX. # Other. This section of the bank contains biological materials and clinical data of patients with other genetic disorders (different from Rett and X-linked mental retardation). Part of this section is dedicated to Alport syndrome. Services: * Isolation of leukocytes from human peripheral blood samples * Establishment of EBV transformed lymphoblastoid cell lines from human peripheral blood leukocytes. * DNA extraction. * Plasma isolation. * Storage: ** Cryo-preservation of transformed cell lines and primary leukocytes at 135��C ** Storage of DNA at 20 degrees C ** Storage of plasma at 20 degrees C * Distribution of the stored biological samples. | duplication syndrome, autosomal mr, microdeletion, retinoblastoma, mecp2, cdkl5, foxg1, clinical, mutation, phenotype, lymphoblastoid cell line, leukocyte, dna, plasma, blood, biomaterial manufacture |
is listed by: One Mind Biospecimen Bank Listing has parent organization: University of Siena; Tuscany; Italy |
Rett Syndrome, Duplication syndrome, Autosomal MR, Microdeletion, Retinoblastoma, X-linked retardation | Telethon Foundation | THIS RESOURCE IS NO LONGER IN SERVICE | nif-0000-12492 | http://www.biobank.unisi.it/ScegliArchivio.asp | SCR_002000 | 2026-08-15 11:29:27 | 2 |
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