ID   GM02366
AC   CVCL_U388
DR   CLO; CLO_0033102
DR   BioSample; SAMN00807739
DR   Coriell; GM02366
DR   Wikidata; Q54837464
RX   CelloPub=CLPUB00447;
CC   Sequence variation: Mutation; HGNC; HGNC:4878; HEXA; Simple; p.Tyr427Ilefs*5 (c.1274_1277dupTATC) (c.1278insTATC); ClinVar=VCV000003889; Zygosity=Heterozygous (Coriell=GM02366).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Discontinued: Coriell; GM02366; probable.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C85184; Tay-Sachs disease
DI   ORDO; Orphanet_845; Tay-Sachs disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   28Y
CA   Transformed cell line
DT   Created: 03-02-14; Last updated: 19-12-24; Version: 17
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992).
//