ID   EHTJUi004-A
DR   BioSamples; SAMEA8394198
DR   hPSCreg; EHTJUi004-A
DR   Wikidata; Q108820184
RX   PubMed=34087998;
CC   From: East Hospital Affiliated to Tongji University; Shanghai; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 3052; DSP; Simple; p.Leu1563fs (c.4683_4684delCT); Zygosity=Heterozygous (PubMed=34087998).
CC   Derived from sampling site: Umbilical cord blood.
DI   NCIt; C84571; Arrhythmogenic right ventricular dysplasia
DI   ORDO; Orphanet_293910; Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
OX   NCBI_TaxID=9606; ! Homo sapiens
SX   Female
AG   <1D
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 16-12-21; Version: 2
RX   PubMed=34087998; DOI=10.1016/j.scr.2021.102369;
RA   Qi Y.-Y., Lu J.-Z., Zhang L., Cao H.-X., Zhu H.-Y., Bai Z.-H.,
RA   Zhang S.-M., Qiao Z.-B., Jia W.-W., Liu Z.-M.;
RT   "An induced pluripotent stem cell line (EHTJUi004-A) generated from a
RT   neonate with c.4683_4684delCT:p.Leu1563fs mutation in the gene DSP
RT   causing familial arrhythmogenic right ventricular dysplasia (ARVD).";
RL   Stem Cell Res. 53:102369-102369(2021).