Key result
Human induced pluripotent stem cells from an ACM patient with a PKP2 mutation and their CRISPR/Cas9-corrected isogenic counterparts successfully expressed pluripotency markers and differentiated.
The generation of this isogenic hiPSC pair provides a genetically controlled in vitro model to study the role of the c.2013delC PKP2 mutation in Arrhythmogenic Cardiomyopathy.
Gene-corrected iPSC lines enable ACM mechanistic studies; clinical translation remains premature.
Arrhythmogenic Cardiomyopathy (ACM) is a rare inherited heart muscle disease characterised by progressive fibro-fatty replacement of the ventricular myocardium leading to life-threatening arrhythmias. We generated human induced pluripotent stem cells (hiPSCs) from a patient affected by ACM and carrying the heterozygous c.2013delC (p.K672Rfs) PKP2 mutation and then corrected the mutation using CRISPR/Cas9 technology. Both hiPSC lines expressed pluripotency markers, maintained a normal karyotype, and differentiated into derivatives of the three germ layers. This isogenic hiPSC pair represents a genetically controlled system to study the role of the c.2013delC PKP2 mutation in vitro.
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Meraviglia et al. (2020) studied Arrhythmogenic Cardiomyopathy (ACM) (n=1). CRISPR/Cas9 mutation correction vs. Uncorrected hiPSC line (mutated) was evaluated on Pluripotency, karyotype, and differentiation capacity. Human induced pluripotent stem cells from an ACM patient with a PKP2 mutation and their CRISPR/Cas9-corrected isogenic counterparts successfully expressed pluripotency markers and differentiated.
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