ID   HUBUi001-A
AC   CVCL_A2EJ
DR   hPSCreg; HUBUi001-A
DR   Wikidata; Q105509533
RX   PubMed=32942234;
CC   From: Hubei University; Hubei; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 3052; DSP; Simple; p.Gly35Val (c.104G>T); Zygosity=Heterozygous (PubMed=32942234).
CC   Sequence variation: Mutation; HGNC; 3052; DSP; Simple; p.Arg1873Cys (c.5617C>T); ClinVar=VCV000222581; Zygosity=Heterozygous (PubMed=32942234).
CC   Caution: Indicated to be of female origin in PubMed=32942234, but karyotype from the same paper shows X,Y.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
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 (Human)
SX   Female
AG   2Y
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=32942234; DOI=10.1016/j.scr.2020.101977;
RA   Xia S.-T., Wang X.-D., Yue P., Li Y.-F., Zhang D.-H.;
RT   "Establishment of induced pluripotent stem cell lines from a family of
RT   an ARVC patient receiving heart transplantation in infant age carrying
RT   compound heterozygous mutations in DSP gene.";
RL   Stem Cell Res. 48:101977-101977(2020).
//