ID   SHETi003-A
AC   CVCL_C1WH
DR   BioSamples; SAMEA12941516
DR   hPSCreg; SHETi003-A
DR   Wikidata; Q114313010
RX   PubMed=35679758;
CC   From: Department of Cardiology, Shanghai Children's Hospital, Shanghai Jiaotong University; Shanghai; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; HGNC:27365; TECRL; Simple; p.Arg196Gln (c.587G>A); ClinVar=VCV000372284; Zygosity=Heterozygous (PubMed=35679758).
CC   Sequence variation: Mutation; HGNC; HGNC:27365; TECRL; Simple; c.918+3T>G; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=35679758).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C189278; Catecholaminergic polymorphic ventricular tachycardia type 3
DI   ORDO; Orphanet_3286; Catecholaminergic polymorphic ventricular tachycardia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   13Y
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 19-12-24; Version: 5
//
RX   PubMed=35679758; DOI=10.1016/j.scr.2022.102811;
RA   Liu W., Liu T., Xiao T.-T., Xie L.-J., Hou C.-L., Jiang X.-W.;
RT   "Generation of an induced pluripotent stem cell line from a Chinese
RT   Han child with catecholaminergic polymorphic ventricular
RT   tachycardia.";
RL   Stem Cell Res. 62:102811-102811(2022).
//