ID   SHETi002-A
AC   CVCL_A1TE
DR   BioSamples; SAMEA7683807
DR   hPSCreg; SHETi002-A
DR   Wikidata; Q105511078
RX   PubMed=33497884;
CC   From: Department of Cardiology, Shanghai Children's Hospital, Shanghai Jiaotong University; Shanghai; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 2511; CTNNA3; Simple; p.Met737Ile (c.2211G>C); ClinVar=VCV000643288; Zygosity=Heterozygous (PubMed=33497884).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C176008; Familial arrhythmogenic right ventricular dysplasia 13
DI   ORDO; Orphanet_293910; Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   14Y
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=33497884; DOI=10.1016/j.scr.2021.102183;
RA   Hou C.-L., Liu W., Xie L.-J., Zheng J.-M., Chen X.-N., Sun X.-M.,
RA   Zhang Y.-W., Xu M., Li Y., Xiao T.-T.;
RT   "Generation of an induced pluripotent stem cell line from a Chinese
RT   Han child with arrhythmia.";
RL   Stem Cell Res. 51:102183-102183(2021).
//