ID   ZZUSAHi004-A
AC   CVCL_C6U7
DR   BioSamples; SAMEA111442306
DR   hPSCreg; ZZUSAHi004-A
DR   Wikidata; Q123034010
RX   PubMed=36395689;
CC   From: Zhengzhou University Second Affiliated Hospital; Zhengzhou; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; HGNC:379; AKAP9; Simple; p.Gln1341Lys (c.4021C>A); Zygosity=Heterozygous (PubMed=36395689).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C192195; Long QT syndrome 11
DI   ORDO; Orphanet_768; Familial long QT syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   3Y
CA   Induced pluripotent stem cell
DT   Created: 21-03-23; Last updated: 19-12-24; Version: 4
//
RX   PubMed=36395689; DOI=10.1016/j.scr.2022.102966;
RA   Ding, Tong-Bin
RA   Zhu, Wen-Li
RA   Li, Xiao-Wei
RA   Jian, Li-Guo
RT   "Reprogramming of a human induced pluripotent stem cell line
RT   (ZZUSAHi004-A) from a long QT syndrome patient with a heterozygous
RT   AKAP9 (c.4021C > A) mutant.";
RL   Stem Cell Res. 65:102966-102966(2022).
//