ID   SCVIi111-A
AC   CVCL_D6LT
SY   SCVI-627; SCVI 627; SCVI627
DR   BioSamples; SAMEA115429405
DR   hPSCreg; SCVIi111-A
DR   Wikidata; Q127384246
RX   PubMed=38763038;
CC   From: Stanford Cardiovascular Institute; Palo Alto; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:6294; KCNQ1; Simple; p.Leu374His (c.1121T>A); ClinVar=VCV000052961; Zygosity=Heterozygous (PubMed=38763038).
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   40Y
CA   Induced pluripotent stem cell
DT   Created: 02-05-24; Last updated: 19-12-24; Version: 3
//
RX   PubMed=38763038; DOI=10.1016/j.scr.2024.103443; PMCID=PMC11365511;
RA   Ren L., Jahng J.W.S., Belbachir N., Cook Z., Rivero G.C., Perez M.V.,
RA   Wu J.C.;
RT   "Generation of induced pluripotent stem cell lines from patients with
RT   LQT1 caused by heterozygous mutations in the KCNQ1 gene.";
RL   Stem Cell Res. 78:103443-103443(2024).
//