ID   HDZi003-A
AC   CVCL_D0QG
SY   hiPSC NP0038
DR   BioSamples; SAMEA114251188
DR   hPSCreg; HDZi003-A
DR   Wikidata; Q123031574
RX   PubMed=38430734;
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=38430734).
CC   Omics: Deep exome analysis.
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   53Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 02-05-24; Version: 3
//
RX   PubMed=38430734; DOI=10.1016/j.scr.2024.103354;
RA   Ratnavadivel S., Dammeier J., Gaertner A., Szymanski de Toledo M.A.,
RA   Zenke M., Gummert J., Rasmussen T.B., Klinke N., Jurgens K., Meyer H.,
RA   Paululat A., Milting H.;
RT   "Generation of a TMEM43 knockout human induced pluripotent stem cell
RT   line (HDZi003-A-1) using CRISPR/Cas9.";
RL   Stem Cell Res. 76:103354-103354(2024).
//