Home  |  Contact

Cellosaurus LIBUCi001-A (CVCL_ZL56)

[Text version]
Cell line name LIBUCi001-A
Synonyms DCMAP1
Accession CVCL_ZL56
Resource Identification Initiative To cite this cell line use: LIBUCi001-A (RRID:CVCL_ZL56)
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; 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 Male
Age at sampling 8Y
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)

Cross-references
Cell line databases/resources hPSCreg; LIBUCi001-A
Encyclopedic resources Wikidata; Q98126911
Entry history
Entry creation02-Jul-2020
Last entry update29-Jun-2023
Version number7