ID   GM00515
AC   CVCL_U384
SY   GM-515; GM515; GM00515A
DR   CLO; CLO_0025935
DR   Coriell; GM00515
DR   Wikidata; Q54836282
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=3375249;
RX   PubMed=30220252;
CC   Population: Jewish; Ashkenazi.
CC   Sequence variation: Mutation; HGNC; HGNC:4878; HEXA; Simple; p.Trp392Ter (c.1176G>A); ClinVar=VCV000003936; Zygosity=Heterozygous (Coriell=GM00515).
CC   Sequence variation: Mutation; HGNC; HGNC:4878; HEXA; Simple; p.Tyr427Ilefs*5 (c.1274_1277dupTATC) (c.1278insTATC); ClinVar=VCV000003889; Zygosity=Heterozygous (Coriell=GM00515).
CC   Derived from site: In situ; Heart, pericardium; UBERON=UBERON_0002407.
CC   Cell type: Fibroblast of heart; CL=CL_0002548.
ST   Source(s): PubMed=30220252
ST   Amelogenin: X
ST   CSF1PO: 12
ST   D13S317: 11
ST   D16S539: 12,14
ST   D18S51: 12,17
ST   D21S11: 29,30
ST   D3S1358: 16,17
ST   D5S818: 11,12
ST   D7S820: 11,12
ST   D8S1179: 12,13
ST   FGA: 19,25
ST   Penta D: 12
ST   Penta E: 11,13
ST   TH01: 7,9
ST   TPOX: 8,12
ST   vWA: 14,15
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: 19-12-24; Version: 19
CH   CVCL_B5TY ! HT151A
CH   CVCL_B5TZ ! HT151C
//
RX   DOI=10.5962/bhl.title.4090;
RA   Coriell, Lewis Lemon
RA   Greene, Arthur 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, Mylinh
RA   Li, Rong
RA   Baskfield, Amanda
RA   Lu, Billy
RA   Farkhondeh, Atena
RA   Gorshkov, Kirill
RA   Motabar, Omid
RA   Beers, Jeanette K.
RA   Chen, Guo-Kai
RA   Zou, Ji-Zhong
RA   Espejo-Mojica, Angela J.
RA   Rodriguez-Lopez, Alexander
RA   Almeciga-Diaz, Carlos Javier
RA   Barrera, Luis A.
RA   Jiang, Xun-Tian
RA   Ory, Daniel S.
RA   Marugan, Juan Jose
RA   Zheng, Wei
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).
//
RX   PubMed=3375249; DOI=10.1073/pnas.85.11.3955; PMCID=PMC280339;
RA   Myerowitz, Rachel
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).
//
RX   CelloPub=CLPUB00447;
RA   Mulivor, Richard A.
RA   Suchy, Sharon 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).
//