ID   XACHi015-A
AC   CVCL_B0GT
DR   hPSCreg; XACHi015-A
DR   Wikidata; Q108821532
RX   PubMed=34438161;
CC   From: Children's Research Institute of Shaanxi province, Xi'an Key Laboratory of Children's Health and Diseases; Xi'an; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 6251; KCNH2; Simple; p.Pro605Leu (c.1814C>T); ClinVar=VCV000067284; Zygosity=Heterozygous (PubMed=34438161).
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   Male
AG   10Y
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=34438161; DOI=10.1016/j.scr.2021.102509;
RA   Wang T., Zhou Y.-F., Zhou R., Huang W.-J., Wang J., Li H., Lei M.,
RA   Tan X.-Q., Zhang Y.-M.;
RT   "Generation of induced pluripotent stem cells (iPSCs) from a Chinese
RT   infant (XACHi015-A) with type 2 long QT syndrome carrying the
RT   heterozygous mutation c.1814C>T(p.P605L) in KCNH2.";
RL   Stem Cell Res. 56:102509-102509(2021).
//