ID   GM02968
AC   CVCL_U389
SY   GM2968; GM02968A
DR   CLO; CLO_0012515
DR   BioSample; SAMN00808187
DR   Coriell; GM02968
DR   Wikidata; Q54837776
RX   CelloPub=CLPUB00447;
RX   PubMed=3375249;
CC   Population: Jewish; Ashkenazi.
CC   Sequence variation: Mutation; HGNC; 4878; HEXA; Simple; p.Tyr427Ilefs*5 (c.1274_1277dupTATC) (c.1278insTATC); ClinVar=VCV000003889; Zygosity=Heterozygous (Coriell=GM02968).
CC   Sequence variation: Mutation; HGNC; 4878; HEXA; Simple; c.1421+1G>C (IVS12+1G>C); ClinVar=VCV000003890; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=3375249).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C85184; Tay-Sachs disease
DI   ORDO; Orphanet_845; Tay-Sachs disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   1Y
CA   Finite cell line
DT   Created: 03-02-14; Last updated: 30-01-24; 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) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//
RX   PubMed=3375249; DOI=10.1073/pnas.85.11.3955;
RA   Myerowitz R.;
RT   "Splice junction mutation in some Ashkenazi Jews with Tay-Sachs
RT   disease: evidence against a single defect within this ethnic group.";
RL   Proc. Natl. Acad. Sci. U.S.A. 85:3955-3959(1988).
//