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Cellosaurus JMUi001-A-1 (CVCL_ZL59)

[Text version]
Cell line name JMUi001-A-1
Synonyms DNAJC19tv; UKWCHFi002-A-1
Accession CVCL_ZL59
Resource Identification Initiative To cite this cell line use: JMUi001-A-1 (RRID:CVCL_ZL59)
Comments From: Comprehensive Heart Failure Center, University Clinic Wurzburg; Wurzburg; Germany.
Population: Caucasian.
Knockout cell: Method=CRISPR/Cas9; HGNC; 30528; DNAJC19.
Derived from site: In situ; Foreskin, skin; UBERON=UBERON_0001471.
Cell type: Fibroblast of foreskin; CL=CL_1001608.
Disease 3-methylglutaconic aciduria type 5 (NCIt: C173146)
Dilated cardiomyopathy with ataxia (ORDO: Orphanet_66634)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_ZL58 (JMUi001-A)
Sex of cell Male
Age at sampling 6Y
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; JMUi001-A-1
Encyclopedic resources Wikidata; Q98126798
Entry history
Entry creation02-Jul-2020
Last entry update29-Jun-2023
Version number8