ID   ZJUi004-A
AC   CVCL_ZL89
SY   FXY-iPSC-C9
DR   hPSCreg; ZJUi004-A
DR   Wikidata; Q98136561
RX   PubMed=32916635;
CC   From: Women's Hospital, Zhejiang University School of Medicine; Hangzhou; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; HGNC:9024; PKP2; Simple; c.2357+1G>A (c.2489+1G>A); ClinVar=VCV000006757; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=32916635).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
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   Male
AG   56Y
CA   Induced pluripotent stem cell
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 8
//
RX   PubMed=32916635; DOI=10.1016/j.scr.2020.101965;
RA   Zhou D.-N., Sun Y.-X., Shen J.-X., Su J., Gong T.-Y., Jiang C.-Y.,
RA   Liang P.;
RT   "Generation of an induced pluripotent stem cell line from the dermal
RT   fibroblasts of a patient with arrhythmogenic right ventricular
RT   cardiomyopathy carrying a PKP2/c.2489 + 1G > A mutation.";
RL   Stem Cell Res. 48:101965-101965(2020).
//