ID   HT151C
AC   CVCL_B5TZ
DR   Wikidata; Q111733456
RX   PubMed=30220252;
CC   From: NIH-NCATS-TRND Branch; Rockville; USA.
CC   Population: Jewish; Ashkenazi.
CC   Sequence variation: Mutation; HGNC; 4878; HEXA; Simple; p.Trp392Ter (c.1176G>A); ClinVar=VCV000003936; Zygosity=Heterozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; 4878; HEXA; Simple; p.Tyr427Ilefs*5 (c.1274_1277dupTATC) (c.1278insTATC); ClinVar=VCV000003889; Zygosity=Heterozygous (from parent cell line).
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   D19S433: 14
ST   D21S11: 29,30
ST   D2S1338: 17,25
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)
HI   CVCL_U384 ! GM00515
SX   Female
AG   1Y
CA   Induced pluripotent stem cell
DT   Created: 17-03-22; Last updated: 29-06-23; Version: 4
//
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).
//