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Cellosaurus GM02968 (CVCL_U389)

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Cell line name GM02968
Synonyms GM2968; GM02968A
Accession CVCL_U389
Resource Identification Initiative To cite this cell line use: GM02968 (RRID:CVCL_U389)
Comments Population: Jewish; Ashkenazi.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:4878; HEXA; Simple; p.Tyr427Ilefs*5 (c.1274_1277dupTATC) (c.1278insTATC); ClinVar=VCV000003889; Zygosity=Heterozygous (Coriell=GM02968).
  • Mutation; HGNC; HGNC:4878; HEXA; Simple; c.1421+1G>C (IVS12+1G>C); ClinVar=VCV000003890; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=3375249).
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 1Y
Category Finite cell line
Publications

PubMed=3375249; DOI=10.1073/pnas.85.11.3955; PMCID=PMC280339
Rachel Myerowitz;
Splice junction mutation in some Ashkenazi Jews with Tay-Sachs disease: evidence against a single defect within this ethnic group.
Proc. Natl. Acad. Sci. U.S.A. 85:3955-3959(1988)

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
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; GM02968
Cell line databases/resources CLO; CLO_0012515
Biological sample resources BioSample; SAMN00808187
Encyclopedic resources Wikidata; Q54837776
Entry history
Entry creation03-Feb-2014
Last entry update19-Dec-2024
Version number18