ID   HDZi001-A
AC   CVCL_ZW15
SY   hiPSC NP0039
DR   BioSamples; SAMEA7001542
DR   hPSCreg; HDZi001-A
DR   Wikidata; Q102114108
RX   PubMed=32858485;
CC   From: Heart and Diabetes Center North Rhine Westphalia; Bad Oeynhausen; Germany.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 28472; TMEM43; Simple; p.Ser358Leu (c.1073C>T); ClinVar=VCV000000734; Zygosity=Heterozygous (PubMed=32858485).
CC   Omics: Array-based CGH.
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C173470; Familial arrhythmogenic right ventricular dysplasia 5
DI   ORDO; Orphanet_217656; Familial isolated arrhythmogenic right ventricular dysplasia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   50Y
CA   Induced pluripotent stem cell
DT   Created: 29-10-20; Last updated: 29-06-23; Version: 6
//
RX   PubMed=32858485; DOI=10.1016/j.scr.2020.101957;
RA   Ratnavadivel S., de Toledo M.A.S., Rasmussen T.B., Saric T.,
RA   Gummert J., Zenke M., Milting H.;
RT   "Human pluripotent stem cell line (HDZi001-A) derived from a patient
RT   carrying the ARVC-5 associated mutation TMEM43-p.S358L.";
RL   Stem Cell Res. 48:101957-101957(2020).
//