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Cellosaurus GM02366 (CVCL_U388)

[Text version]
Cell line name GM02366
Accession CVCL_U388
Resource Identification Initiative To cite this cell line use: GM02366 (RRID:CVCL_U388)
Comments 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.Tyr427Ilefs*5 (c.1274_1277dupTATC) (c.1278insTATC); ClinVar=VCV000003889; Zygosity=Heterozygous (Coriell=GM02366).
Disease Tay-Sachs disease (NCIt: C85184)
Tay-Sachs disease (ORDO: Orphanet_845)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 28Y
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; GM02366 - Discontinued
Cell line databases/resources CLO; CLO_0033102
Biological sample resources BioSample; SAMN00807739
Encyclopedic resources Wikidata; Q54837464
Entry history
Entry creation03-Feb-2014
Last entry update19-Dec-2024
Version number17