ID   YUCMi024-A
AC   CVCL_E5EC
SY   hiPSC-KCNQ1_G245G_2
DR   BioSamples; SAMEA115789097
DR   hPSCreg; YUCMi024-A
RX   PubMed=39388802;
CC   From: Yonsei University College of Medicine; Seoul; South Korea.
CC   Sequence variation: Mutation; HGNC; HGNC:6294; KCNQ1; Simple; p.Gly245Glu (c.734G>A); Zygosity=Heterozygous (PubMed=39388802).
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   Male
AG   57Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-24; Last updated: 19-12-24; Version: 1
//
RX   PubMed=39388802; DOI=10.1016/j.scr.2024.103571;
RA   Mun, Dasom
RA   Yoo, Gyeongseo
RA   Park, Malgeum
RA   Kang, Ji-Young
RA   Yun, Nuri
RA   Joung, Boyoung
RT   "Establishment of two human induced pluripotent stem cell lines from
RT   familial long QT syndrome type 1 patients carrying KCNQ1 mutation.";
RL   Stem Cell Res. 81:103571-103571(2024).
//