ID   SCVIi062-A
AC   CVCL_C1S9
SY   SCVI2150c1
DR   BioSamples; SAMEA110266499
DR   hPSCreg; SCVIi062-A
DR   Wikidata; Q114312976
RX   PubMed=36528013;
CC   From: Stanford Cardiovascular Institute; Palo Alto; USA.
CC   Population: Asian.
CC   Sequence variation: Mutation; HGNC; 11167; SNTA1; Simple; p.Glu363Ala (c.1088A>C); ClinVar=VCV000190918; Zygosity=Heterozygous (PubMed=36528013).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C192202; Long QT syndrome 12
DI   ORDO; Orphanet_768; Familial long QT syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   9Y
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 29-06-23; Version: 4
//
RX   PubMed=36528013; DOI=10.1016/j.scr.2022.103003;
RA   Jimenez-Tellez N., Vera C.D., Yildirim Z., Guevara J.V., Zhang T.,
RA   Wu J.C.;
RT   "Generation of two iPSC lines from long QT syndrome patients carrying
RT   SNTA1 variants.";
RL   Stem Cell Res. 66:103003-103003(2023).
//