ID   ZZUNEUi027-A
AC   CVCL_B7T2
DR   BioSamples; SAMEA14328246
DR   hPSCreg; ZZUNEUi027-A
DR   Wikidata; Q112930601
RX   PubMed=35700634;
CC   From: Zhengzhou University First Affiliated Hospital; Zhengzhou; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 6251; KCNH2; Simple; p.Tyr43Cys (c.128A>G); ClinVar=VCV000067182; Zygosity=Heterozygous (PubMed=35700634).
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   16Y
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 29-06-23; Version: 4
//
RX   PubMed=35700634; DOI=10.1016/j.scr.2022.102836;
RA   Zhao J.-T., Wang L., Zhu K., Chen X.-W., Qin F., Li X.-W., Dong J.-Z.,
RA   Tao H.-L.;
RT   "Human induced pluripotent stem cell line ZZUNEUi027-A generated from
RT   a long QT syndrome patient with a heterozygous KCNH2 (c. 128 A > G)
RT   mutant.";
RL   Stem Cell Res. 63:102836-102836(2022).
//