CRISPR/Cas9-edited PKP2 knock-out (JMUi001-A-2) and DSG2 knock-out (JMUi001-A-3) iPSC lines as an isogenic human model system for arrhythmogenic cardiomyopathy (ACM)
Summary
Arrhythmogenic cardiomyopathy (ACM) is characterized by fibro-fatty replacement of the myocardium, heart failure and life-threatening ventricular arrhythmias. Causal mutations were identified in genes encoding for proteins of the desmosomes, predominantly plakophilin-2 (PKP2) and desmoglein-2 (DSG2). We generated gene-edited knock-out iPSC lines for PKP2 (JMUi001-A-2) and DSG2 (JMUi001-A-3) using the CRISPR/Cas9 system in a healthy control iPSC background (JMUi001-A). Stem cell-like morphology, robust expression of pluripotency markers, embryoid body formation and normal karyotypes confirmed the generation of high quality iPSCs to provide a novel isogenic human in vitro model system mimicking ACM when differentiated into cardiomyocytes. Copyright © 2021 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Janz A, Zink M, Cirnu A, Hartleb A, Albrecht C, Rost S, Klopocki E, Günther K, Edenhofer F, Ergün S, Gerull B |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2021 May;53:102256 |
| PubMed | 33640690 |
| DOI | 10.1016/j.scr.2021.102256 |