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ACTN2 Mutant Causes Proteopathy in Human iPSC-Derived Cardiomyocytes

2 Sept 2022

Abstract excerpt

Genetic variants in α-actinin-2 (ACTN2) are associated with several forms of (cardio)myopathy. We previously reported a heterozygous missense (c.740C>T) ACTN2 gene variant, associated with hypertrophic cardiomyopathy, and characterized by an electro-mechanical phenotype in human induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs). Here, we created with CRISPR/Cas9 genetic tools two heterozygous...

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PMID: 36078153
DOI: 10.3390/cells11172745

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