ID   YUCMi022-A
AC   CVCL_E5EA
SY   hiPSC-KCNH2_G53S
DR   BioSamples; SAMEA115112794
DR   hPSCreg; YUCMi022-A
RX   PubMed=39454535;
CC   From: Yonsei University College of Medicine; Seoul; South Korea.
CC   Sequence variation: Mutation; HGNC; HGNC:6251; KCNH2; Simple; p.Gly53Ser (c.157G>A); ClinVar=VCV000067214; Zygosity=Heterozygous (PubMed=39454535).
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   36Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-24; Last updated: 19-12-24; Version: 1
//
RX   PubMed=39454535; DOI=10.1016/j.scr.2024.103592;
RA   Mun, Dasom
RA   Kang, Ji-Young
RA   Park, Malgeum
RA   Yoo, Gyeongseo
RA   Kim, Hyoeun
RA   Yun, Nuri
RA   Hwang, You Mi
RA   Joung, Boyoung
RT   "Establishment of a human-induced pluripotent stem cell line from a
RT   long QT syndrome type 2 patient harboring a KCNH2 mutation.";
RL   Stem Cell Res. 81:103592-103592(2024).
//