ID   XACHi012-A
AC   CVCL_A8WL
DR   hPSCreg; XACHi012-A
DR   Wikidata; Q108821529
RX   PubMed=34088017;
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; 6294; KCNQ1; Simple; p.Ile145Serfs*92 (c.431delC); Zygosity=Heterozygous (PubMed=34088017).
CC   Sequence variation: Mutation; HGNC; 6294; KCNQ1; Simple; p.Trp392Ter (c.1175G>A) (p.Trp265Ter, c.794G>A); ClinVar=VCV000405268; Zygosity=Heterozygous (PubMed=34088017).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): PubMed=34088017
ST   Amelogenin: X,Y
ST   CSF1PO: 10,12
ST   D12S391: 17,21
ST   D13S317: 8,12
ST   D16S539: 9
ST   D18S51: 15,17
ST   D19S433: 14,15.2
ST   D1S1656: 16,17
ST   D21S11: 30,32.2
ST   D2S1338: 18,21
ST   D3S1358: 15,17
ST   D5S818: 11
ST   D6S1043: 18,20
ST   D7S820: 11,12
ST   D8S1179: 13,15
ST   FGA: 20,22.2
ST   Penta D: 8.2,12
ST   Penta E: 11,19
ST   TH01: 9
ST   TPOX: 8
ST   vWA: 14,17
DI   NCIt; C84793; Jervell and Lange Nielsen syndrome
DI   ORDO; Orphanet_90647; Jervell and Lange-Nielsen syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   2Y
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=34088017; DOI=10.1016/j.scr.2021.102391;
RA   Zhou Y.-F., Wang J., Li H., Li A.-M., Wang G.-X., Tan X.-Q., Lei M.,
RA   Zhang Y.-M.;
RT   "Establishment of iPSC line from a Chinese infant (XACHi012-A) with
RT   Jervell and Lange-Nielsen syndrome carrying combined KCNQ1 frameshift
RT   c.431delC(p.I145Sfs*92) and nonsense c.1175G > A (p.W392X) variants
RT   and two iPSC lines from the parents (XACHi013-A, XACHi014-A).";
RL   Stem Cell Res. 53:102391-102391(2021).
//