ID   XACHi009-A
AC   CVCL_YM82
SY   P3
DR   hPSCreg; XACHi009-A
DR   SKIP; SKIP005746
DR   Wikidata; Q98135122
RX   PubMed=32344329;
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.
CC   Sequence variation: Mutation; HGNC; HGNC:6240; KCNE1; Simple; p.Asp76Asn (c.226G>A); ClinVar=VCV000013477; Zygosity=Heterozygous (PubMed=32344329).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C172094; Long QT syndrome 5
DI   ORDO; Orphanet_101016; Romano-Ward syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   28Y
CA   Induced pluripotent stem cell
DT   Created: 12-03-20; Last updated: 19-12-24; Version: 8
//
RX   PubMed=32344329; DOI=10.1016/j.scr.2020.101798;
RA   Zhang Y.-M., Li H., Wang J., Wang G.-X., Tan X.-Q., Lei M.;
RT   "Generation of three iPSC lines (XACHi007-A, XACHi008-A, XACHi009-A)
RT   from a Chinese family with long QT syndrome type 5 with heterozygous
RT   c.226G>A (p.D76N) mutation in KCNE1 gene.";
RL   Stem Cell Res. 45:101798-101798(2020).
//