ID   JSPHi002-A
AC   CVCL_C0JJ
DR   hPSCreg; JSPHi002-A
DR   Wikidata; Q112929900
RX   PubMed=35580545;
CC   From: Division of Cardiology, The First Affiliated Hospital of Nanjing Medical University; Nanjing; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; HGNC:6294; KCNQ1; Simple; p.His258Leu (c.773A>T); Zygosity=Heterozygous (PubMed=35580545).
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   25Y
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 19-12-24; Version: 5
//
RX   PubMed=35580545; DOI=10.1016/j.scr.2022.102810;
RA   Wang, Qing
RA   Zhang, Yi-Ke
RA   Zhang, Feng
RA   Li, Zhao-Min
RA   Cheng, Hong-Yi
RA   Lin, Yong-Ping
RA   Zhu, Yue
RA   Chen, Hong-Wu
RA   Cui, Chang
RA   Chen, Ming-Long
RT   "Generation of a human induced pluripotent stem cell line (JSPHi002-A)
RT   from a patient with long-QT syndrome type 1 caused by KCNQ1 c.773A > T
RT   mutation.";
RL   Stem Cell Res. 62:102810-102810(2022).
//