ID   GM00221
AC   CVCL_U381
SY   GM-221
DR   CLO; CLO_0025508
DR   Coriell; GM00221
DR   Wikidata; Q54836100
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=30220252;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 4878; HEXA; Simple; p.Tyr427Ilefs*5 (c.1274_1277dupTATC) (c.1278insTATC); ClinVar=VCV000003889; Zygosity=Homozygous (Coriell=GM00221).
CC   Cell type: Fibroblast; CL=CL_0000057.
ST   Source(s): PubMed=30220252
ST   Amelogenin: X,Y
ST   CSF1PO: 10
ST   D13S317: 8,12
ST   D16S539: 13
ST   D18S51: 13,15
ST   D21S11: 31.2,33.2
ST   D3S1358: 16,18
ST   D5S818: 12,13
ST   D7S820: 8,11
ST   D8S1179: 13,16
ST   FGA: 20,25
ST   Penta D: 13,15
ST   Penta E: 11,14
ST   TH01: 6,10
ST   TPOX: 8,11
ST   vWA: 14,17
DI   NCIt; C85184; Tay-Sachs disease
DI   ORDO; Orphanet_845; Tay-Sachs disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   3Y
CA   Finite cell line
DT   Created: 03-02-14; Last updated: 30-01-24; Version: 16
//
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).
//
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 misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977).
//
RX   PubMed=30220252; DOI=10.1186/s13023-018-0886-3; PMCID=PMC6139903;
RA   Vu M., Li R., Baskfield A., Lu B., Farkhondeh A., Gorshkov K.,
RA   Motabar O., Beers J.K., Chen G.-K., Zou J.-Z., Espejo-Mojica A.J.,
RA   Rodriguez-Lopez A., Almeciga-Diaz C.J., Barrera L.A., Jiang X.-T.,
RA   Ory D.S., Marugan J.J., Zheng W.;
RT   "Neural stem cells for disease modeling and evaluation of therapeutics
RT   for Tay-Sachs disease.";
RL   Orphanet J. Rare Dis. 13:152.1-152.15(2018).
//