ID   KSCBi015-A
AC   CVCL_B0PU
SY   DPHCi08; LQT08-hiPSC
DR   hPSCreg; KSCBi015-A
DR   Wikidata; Q108820631
RX   PubMed=34509919;
CC   From: National Institute of Health, Korea-National Stem Cell Bank (KSCB); Cheongwon-gun; South Korea.
CC   Population: Korean.
CC   Sequence variation: Mutation; HGNC; 6294; KCNQ1; Simple; p.Arg190Gln (c.569G>A) (p.Arg63Gln, c.188G>A); ClinVar=VCV000003117; Zygosity=Heterozygous (PubMed=34509919).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C85049; Long QT syndrome 1
DI   ORDO; Orphanet_101016; Romano-Ward syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   27Y
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=34509919; DOI=10.1016/j.scr.2021.102521;
RA   Lee Y., Park H., Kyung Koo S., Kim J.-H.;
RT   "Establishment of a human induced pluripotent stem cell line,
RT   KSCBi015-A, from a long QT syndrome type 1 patient harboring a KCNQ1
RT   mutation.";
RL   Stem Cell Res. 56:102521-102521(2021).
//