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
Summary
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. Copyright © 2020 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Janz A, Chen R, Regensburger M, Ueda Y, Rost S, Klopocki E, Günther K, Edenhofer F, Duff HJ, Ergün S, Gerull B |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2020 Jul;46:101856 |
| PubMed | 32521499 |
| DOI | 10.1016/j.scr.2020.101856 |