ID   XACHi001-A
DR   hPSCreg; XACHi001-A
DR   Wikidata; Q98135103
RX   PubMed=31382203;
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; 10484; RYR2; Simple; p.Ala1855Asp (c.5564C>A); Zygosity=Heterozygous (PubMed=31382203).
CC   Sequence variation: Mutation; HGNC; 10582; SCN10A; Simple; p.Gln1362His (c.4086G>T); Zygosity=Heterozygous (PubMed=31382203).
CC   Derived from sampling site: Peripheral blood.
ST   Source(s): PubMed=31382203
ST   Amelogenin: X,Y
ST   CSF1PO: 11,12
ST   D12S391: 20
ST   D13S317: 8,13
ST   D16S539: 9,12
ST   D18S51: 13,14
ST   D19S433: 14,14.2
ST   D1S1656: 16
ST   D21S11: 29,32.2
ST   D2S1338: 20,23
ST   D3S1358: 15
ST   D5S818: 12
ST   D6S1043: 14,19
ST   D7S820: 10,12
ST   D8S1179: 13
ST   FGA: 22,23
ST   Penta D: 10,12
ST   Penta E: 12,16
ST   TH01: 9
ST   TPOX: 8,11
ST   vWA: 14,19
DI   NCIt; C123414; Catecholaminergic polymorphic ventricular tachycardia type 1
DI   ORDO; Orphanet_3286; Catecholaminergic polymorphic ventricular tachycardia
OX   NCBI_TaxID=9606; ! Homo sapiens
SX   Male
AG   4M
CA   Induced pluripotent stem cell
DT   Created: 06-09-19; Last updated: 20-05-21; Version: 4
RX   PubMed=31382203; DOI=10.1016/j.scr.2019.101509;
RA   Zhang Y.-M., Li A.-M., Huang C.L.-H., Wang G.-X., Wang D.-Y.;
RT   "Generation of induced pluripotent stem cells (iPSCs) from an infant
RT   with catecholaminergic polymorphic ventricular tachycardia carrying
RT   the double heterozygous mutations A1855D in RyR2 and Q1362H in
RT   SCN10A.";
RL   Stem Cell Res. 39:101509-101509(2019).