ID   SHEHi002-A
AC   CVCL_YX74
SY   5426; iPS36
DR   BioSamples; SAMEA6233350
DR   hPSCreg; SHEHi002-A
DR   SKIP; SKIP005822
DR   Wikidata; Q98132507
RX   PubMed=32062134;
CC   From: Shanghai East Hospital; Shanghai; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 1390; CACNA1C; Simple; p.Arg858His (c.2573G>A); ClinVar=VCV000190653; Zygosity=Heterozygous (PubMed=32062134).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C142894; Long QT syndrome 8
DI   ORDO; Orphanet_65283; Timothy syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   10Y
CA   Induced pluripotent stem cell
DT   Created: 12-03-20; Last updated: 29-06-23; Version: 6
//
RX   PubMed=32062134; DOI=10.1016/j.scr.2020.101731;
RA   Zhou H.-M., Zhou X.-Q., Lu J.-Z., Jia W.-W., Kang J.-H.;
RT   "An induced pluripotent stem cell line (SHEHi002-A (5426)) from a
RT   patient of long QT syndrome type 8 with c.2573G>A mutation in the gene
RT   CACNA1C.";
RL   Stem Cell Res. 43:101731-101731(2020).
//