ID   TSD-01-hiPSC
AC   CVCL_A4NQ
DR   Wikidata; Q105511275
RX   PubMed=27879213;
CC   From: University of Alabama at Birmingham; Birmingham; USA.
CC   Population: Jewish; Ashkenazi.
CC   Sequence variation: Mutation; HGNC; 4878; HEXA; Simple; p.Tyr427Ilefs*5 (c.1274_1277dupTATC) (c.1278insTATC); ClinVar=VCV000003889; Zygosity=Heterozygous (PubMed=27879213).
CC   Sequence variation: Mutation; HGNC; 4878; HEXA; Simple; c.1421+1G>C (IVS12+1G>C); ClinVar=VCV000003890; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=27879213).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C85184; Tay-Sachs disease
DI   ORDO; Orphanet_845; Tay-Sachs disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_U382 ! GM00502
SX   Male
AG   11M
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 29-06-23; Version: 5
//
RX   PubMed=27879213; DOI=10.1016/j.scr.2016.08.010;
RA   Liu Z., Zhao R.;
RT   "Generation of HEXA-deficient hiPSCs from fibroblasts of a Tay-Sachs
RT   disease patient.";
RL   Stem Cell Res. 17:289-291(2016).
//