Cellosaurus cell line LIBUCi002-A (CVCL

Cross-references
Cell line name	LIBUCi002-A
Synonyms	DCMAP2
Accession	CVCL_ZL57
Resource Identification Initiative	To cite this cell line use: LIBUCi002-A (RRID:CVCL_ZL57)
Comments	From: Libin Cardiovascular Institute of Alberta, University of Calgary; Calgary; Canada. Population: Caucasian; Canadian Dariusleut Hutterite. Derived from site: In situ; Arm, skin, dermis; UBERON=UBERON_0002427+UBERON_0002067. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:30528; DNAJC19; Simple; c.130-1G>C; ClinVar=VCV000001951; Zygosity=Homozygous; Note=Splice acceptor mutation (PubMed=32521499).
Disease	3-methylglutaconic aciduria type 5 (NCIt: C173146) Dilated cardiomyopathy with ataxia (ORDO: Orphanet_66634)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	10Y
Category	Induced pluripotent stem cell
Publications	PubMed=32521499; DOI=10.1016/j.scr.2020.101856 Janz A., Chen R.-P., Regensburger M., Ueda Y., Rost S., Klopocki E., Gunther K., Edenhofer F., Duff H.J., Ergun S., Gerull B. Generation of two patient-derived iPSC lines from siblings (LIBUCi001-A and LIBUCi002-A) and a genetically modified iPSC line (JMUi001-A-1) to mimic dilated cardiomyopathy with ataxia (DCMA) caused by a homozygous DNAJC19 mutation. Stem Cell Res. 46:101856-101856(2020)
Cell line databases/resources	hPSCreg; LIBUCi002-A
Encyclopedic resources	Wikidata; Q98126912
Entry history
Entry creation	02-Jul-2020
Last entry update	19-Dec-2024
Version number	8