ID   ZJYYPHi001-A
AC   CVCL_B5GQ
DR   hPSCreg; ZJYYPHi001-A
DR   Wikidata; Q110434441
RX   PubMed=34678660;
CC   From: Yuyao People's Hospital of Zhejiang Province; Yuyao city; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 10593; SCN5A; Simple; p.Arg513Cys (c.1537C>T); ClinVar=VCV000201456; Zygosity=Heterozygous (PubMed=34678660).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C137959; Long QT syndrome 3
DI   ORDO; Orphanet_101016; Romano-Ward syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   28Y
CA   Induced pluripotent stem cell
DT   Created: 16-12-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=34678660; DOI=10.1016/j.scr.2021.102576;
RA   Chen J.-N., Song Y.-S., Gu J.-Q., Chen L.;
RT   "Reprogramming of a human induced pluripotent stem cell line from a
RT   long QT syndrome patient harboring a heterozygous mutation of c.1537C>T
RT   in SCN5A gene.";
RL   Stem Cell Res. 57:102576-102576(2021).
//