ID   ZJUi010-A
AC   CVCL_C0IJ
SY   161103SPYLQTFSDC12; ZJULLi002-A
DR   BioSamples; SAMEA14091364
DR   hPSCreg; ZJUi010-A
DR   Wikidata; Q112930592
RX   PubMed=35569348;
CC   From: Zhejiang University School of Medicine; Hangzhou; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; HGNC:6251; KCNH2; Simple; p.Tyr652Ter (c.1956C>A); Zygosity=Heterozygous (PubMed=35569348).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C137957; Long QT syndrome 2
DI   ORDO; Orphanet_101016; Romano-Ward syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   19Y
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 19-12-24; Version: 5
//
RX   PubMed=35569348; DOI=10.1016/j.scr.2022.102813;
RA   Guo, Feng-Feng
RA   Sun, Ya-Xun
RA   Wang, Hong-Kun
RA   Wang, Hao
RA   Zhou, Jing-Jun
RA   Fan, Hang-Ping
RA   Su, Jun
RA   Gong, Ting-Yu
RA   Jiang, Chen-Yang
RA   Liang, Ping
RT   "Generation of an induced pluripotent stem cell line from a long QT
RT   syndrome patient carrying KCNH2/1956C > A mutation.";
RL   Stem Cell Res. 62:102813-102813(2022).
//