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.

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.

• Authors: Anna Janz, Ruping Chen, Martina Regensburger, Yuichiro Ueda, Simone Rost, Eva Klopocki, Katharina Günther, Frank Edenhofer, Henry J Duff, Süleyman Ergün, Brenda Gerull
• Journal: Stem cell research (Stem Cell Res) Vol. 46 Pg. 101856 (07 2020) ISSN: 1876-7753 [Electronic] England
• PMID: 32521499 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2020 The Author(s). Published by Elsevier B.V. All rights reserved.

Topics

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