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

Anna Janz; Ruping Chen; Martina Regensburger; Yuichiro Ueda; Simone Rost; Eva Klopocki; Katharina Günther; Frank Edenhofer; Henry J Duff; Süleyman Ergün; Brenda Gerull

doi:10.1016/j.scr.2020.101856

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. 2020 Jul:46:101856. doi: 10.1016/j.scr.2020.101856. Epub 2020 Jun 2.

Authors

Affiliations

¹ Comprehensive Heart Failure Center (CHFC) and Department of Internal Medicine I, University Hospital Würzburg, Würzburg, Germany.
² Institute of Anatomy and Cell Biology II, University of Würzburg, Würzburg, Germany.
³ Institute of Human Genetics, Biocentre, University of Würzburg, Würzburg, Germany.
⁴ Institute of Molecular Biology & CMBI, University of Innsbruck, Innsbruck, Austria; Institute of Molecular Regenerative Medicine, Spinal Cord Injury and Tissue Regeneration Center Salzburg, Paracelsus Medical University, Salzburg, Austria.
⁵ Institute of Molecular Biology & CMBI, University of Innsbruck, Innsbruck, Austria.
⁶ Libin Cardiovascular Institute of Alberta, Department of Cardiac Sciences, University of Calgary, Calgary, Canada.
⁷ Comprehensive Heart Failure Center (CHFC) and Department of Internal Medicine I, University Hospital Würzburg, Würzburg, Germany; Libin Cardiovascular Institute of Alberta, Department of Cardiac Sciences, University of Calgary, Calgary, Canada. Electronic address: gerull_b@ukw.de.

PMID: 32521499
DOI: 10.1016/j.scr.2020.101856

Abstract

Dilated cardiomyopathy with ataxia (DCMA) is an autosomal recessive disorder arising from mutations in DNAJC19. Two patient-derived dermal fibroblast cell lines of siblings with the same homozygous splice acceptor site mutation in DNAJC19 (NM_145261.4):c.130-1G>C were reprogrammed into induced pluripotent stem cell (iPSC) lines (LIBUCi001-A and LIBUCi002-A) using non-integrative Sendai virus. Additionally, a third DNAJC19tv (truncation variant) iPSC line (JMUi001-A-1) was generated by CRISPR/Cas9 in healthy control iPSCs (JMUi001-A). All three DCMA iPSC lines present normal karyotypes, high expression of pluripotency markers and the capacity to differentiate into cells of all three germ layers.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Ataxia
Cardiomyopathy, Dilated*
Humans
Induced Pluripotent Stem Cells*
Mutation
Siblings