Article

<i>ACTN2</i> mutant causes proteopathy in human iPSC-derived cardiomyocytes

2021-10-28

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 funct...

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Literature Corpus work: 354904cf-5c45-5132-913b-c9fa9233f8a0
DOI: 10.1101/2021.10.28.466251

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