ID   GM00527
AC   CVCL_U385
SY   GM-527
DR   CLO; CLO_0026040
DR   Coriell; GM00527
DR   Wikidata; Q54836292
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
CC   Sequence variation: Mutation; HGNC; 4878; HEXA; Simple; p.Trp420Cys (c.1260G>C); ClinVar=VCV000003901; Zygosity=Heterozygous (Coriell=GM00527).
CC   Sequence variation: Mutation; HGNC; 4878; HEXA; Simple; c.1330+1G>A (IVS11+1G>A); ClinVar=VCV000371490; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM00527).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C85184; Tay-Sachs disease
DI   ORDO; Orphanet_845; Tay-Sachs disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   1Y
CA   Finite cell line
DT   Created: 03-02-14; Last updated: 30-01-24; Version: 19
//
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).
//