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Cellosaurus GM03586 (CVCL_U393)

[Text version]
Cell line name GM03586
Accession CVCL_U393
Resource Identification Initiative To cite this cell line use: GM03586 (RRID:CVCL_U393)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 4878; HEXA; Simple; p.Tyr427Ilefs*5 (c.1274_1277dupTATC) (c.1278insTATC); ClinVar=VCV000003889; Zygosity=Homozygous (Coriell=GM03586).
Disease Tay-Sachs disease (NCIt: C85184)
Tay-Sachs disease (ORDO: Orphanet_845)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 3Y
Category Transformed cell line
Publications

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

Cross-references
Cell line collections (Providers) Coriell; GM03586
Cell line databases/resources CLO; CLO_0017210
Biological sample resources BioSample; SAMN00808462
Encyclopedic resources Wikidata; Q54838144
Entry history
Entry creation03-Feb-2014
Last entry update30-Jan-2024
Version number16