Generation of CRISPR/Cas9 edited human induced pluripotent stem cell line carrying the heterozygous p.H695VfsX5 frameshift mutation in the exon 10 of the PKP2 gene
Summary
Loss-of-function mutations in the PKP2 gene are associated with arrhythmogenic right ventricular cardiomyopathy (ARVC), a rare cardiac disease associated with a poor prognosis. The search for therapeutics and a better understanding of the molecular mechanisms of the disease require the development of cellular modelling. Using CRISPR/Cas9, we generated a hiPSC line with heterozygous 7-bp deletion in exon 10 of PKP2 (p.H695VfsX5). We demonstrated that hiPSCs were fully pluripotent and showed a high rate of differentiation into cardiomyocytes (iPS-CM). We also showed that PKP2 protein was expressed at the plasma membrane, with an overall decreased expression in iPS-CM indicating haploinsufficiency. Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Pierre B, Laëtitia DB, Camille B, Claire P, Elise B, Estelle G, Vincent F, Eric V |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Apr;76:103341 |
| PubMed | 38382214 |
| DOI | 10.1016/j.scr.2024.103341 |