ID   LIBUCi001-A
AC   CVCL_ZL56
SY   DCMAP1
DR   hPSCreg; LIBUCi001-A
DR   Wikidata; Q98126911
RX   PubMed=32521499;
CC   From: Libin Cardiovascular Institute of Alberta, University of Calgary; Calgary; Canada.
CC   Population: Caucasian; Canadian Dariusleut Hutterite.
CC   Sequence variation: Mutation; HGNC; 30528; DNAJC19; Simple; c.130-1G>C; ClinVar=VCV000001951; Zygosity=Homozygous; Note=Splice acceptor mutation (PubMed=32521499).
CC   Derived from site: In situ; Arm, skin, dermis; UBERON=UBERON_0002427+UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C173146; 3-methylglutaconic aciduria type 5
DI   ORDO; Orphanet_66634; Dilated cardiomyopathy with ataxia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   8Y
CA   Induced pluripotent stem cell
DT   Created: 02-07-20; Last updated: 29-06-23; Version: 7
//
RX   PubMed=32521499; DOI=10.1016/j.scr.2020.101856;
RA   Janz A., Chen R.-P., Regensburger M., Ueda Y., Rost S., Klopocki E.,
RA   Gunther K., Edenhofer F., Duff H.J., Ergun S., Gerull B.;
RT   "Generation of two patient-derived iPSC lines from siblings
RT   (LIBUCi001-A and LIBUCi002-A) and a genetically modified iPSC line
RT   (JMUi001-A-1) to mimic dilated cardiomyopathy with ataxia (DCMA)
RT   caused by a homozygous DNAJC19 mutation.";
RL   Stem Cell Res. 46:101856-101856(2020).
//