ID   GM00514
AC   CVCL_U383
SY   GM-514
DR   CLO; CLO_0025936
DR   Coriell; GM00514
DR   Wikidata; Q54836281
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
CC   Population: Jewish; Ashkenazi.
CC   Sequence variation: Mutation; HGNC; 4878; HEXA; Simple; p.Trp392Ter (c.1176G>A); ClinVar=VCV000003936; Zygosity=Heterozygous (from familial inference of GM00515).
CC   Sequence variation: Mutation; HGNC; 4878; HEXA; Simple; p.Tyr427Ilefs*5 (c.1274_1277dupTATC) (c.1278insTATC); ClinVar=VCV000003889; Zygosity=Heterozygous (from familial inference of GM00515).
CC   Derived from site: In situ; Heart, pericardium; UBERON=UBERON_0002407.
CC   Cell type: Fibroblast of heart; CL=CL_0002548.
DI   NCIt; C85184; Tay-Sachs disease
DI   ORDO; Orphanet_845; Tay-Sachs disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   3Y
CA   Finite cell line
DT   Created: 03-02-14; Last updated: 29-06-23; Version: 11
//
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   DOI=10.5962/bhl.title.4090;
RA   Coriell L.L., Greene A.E.;
RT   "The human genetic mutant cell repository: list of genetic variants,
RT   chromosomal aberrations and normal cell cultures submitted to the
RT   repository. 4th edition. October 1977.";
RL   (In) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977).
//