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Cellosaurus GM03575 (CVCL_N010)

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Cell line name GM03575
Synonyms GM17362
Accession CVCL_N010
Resource Identification Initiative To cite this cell line use: GM03575 (RRID:CVCL_N010)
Comments Part of: Human variation panel.
Population: Jewish; Ashkenazi.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:4878; HEXA; Simple; p.Gly269Ser (c.805G>A); ClinVar=VCV000003898; Zygosity=Heterozygous (Coriell=GM03575).
  • Mutation; HGNC; HGNC:4878; HEXA; Simple; p.Tyr427Ilefs*5 (c.1274_1277dupTATC) (c.1278insTATC); ClinVar=VCV000003889; Zygosity=Heterozygous (Coriell=GM03575).
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 31Y
Category Transformed cell line
Publications

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; GM03575
Coriell; GM17362
Cell line databases/resources CLO; CLO_0013705
CLO; CLO_0017232
Biological sample resources BioSample; SAMN00808455
Encyclopedic resources Wikidata; Q54838137
Entry history
Entry creation05-Nov-2013
Last entry update19-Dec-2024
Version number19