ID   KSCBi014-A
AC   CVCL_B5RZ
SY   DPHCi01; LQT01-hiPSC
DR   hPSCreg; KSCBi014-A
DR   Wikidata; Q111733560
RX   PubMed=34678663;
CC   From: National Institute of Health, Korea-National Stem Cell Bank (KSCB); Cheongwon-gun; South Korea.
CC   Population: Korean.
CC   Sequence variation: Mutation; HGNC; 6251; KCNH2; Simple; p.Thr152Profs*14 (c.453delC); ClinVar=VCV000200598; Zygosity=Heterozygous (PubMed=34678663).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C137957; Long QT syndrome 2
DI   ORDO; Orphanet_101016; Romano-Ward syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   55Y
CA   Induced pluripotent stem cell
DT   Created: 17-03-22; Last updated: 29-06-23; Version: 4
//
RX   PubMed=34678663; DOI=10.1016/j.scr.2021.102570;
RA   Lee Y., Koo S.K., Kim J.-H.;
RT   "Establishment of a human-induced pluripotent stem cell line,
RT   KSCBi014-A, from a long QT syndrome type 2 patient harboring a KCNH2
RT   mutation.";
RL   Stem Cell Res. 57:102570-102570(2021).
//