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Protein Profiling of human iPSC-derived cardiomyocytes with mutations in ACTN2

ABSTRACT: Genetic variants in α-actinin 2 (ACTN2) are associated with several forms of (cardio)myopathy. Here, we analyzed the proteome of 2D and EHT cultured cardiomyocytes derived from mutant-expressing (ACTN2mut) and a wild-type-expressing (ACTN2wt) hiPSC lines, both created with CRISPR/Cas9 genetic tools.

INSTRUMENT(S): Q Exactive

ORGANISM(S): Homo Sapiens (human)

TISSUE(S): Cardiocyte

DISEASE(S): Cardiovascular System Disease

SUBMITTER: Elke Hammer

LAB HEAD: Dr. Elke Hammer

PROVIDER: PXD034258 | Pride | 2022-10-13

REPOSITORIES: Pride

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<i>ACTN2</i> Mutant Causes Proteopathy in Human iPSC-Derived Cardiomyocytes.

Zech Antonia T L ATL Prondzynski Maksymilian M Singh Sonia R SR Pietsch Niels N Orthey Ellen E Alizoti Erda E Busch Josefine J Madsen Alexandra A Behrens Charlotta S CS Meyer-Jens Moritz M Mearini Giulia G Lemoine Marc D MD Krämer Elisabeth E Mosqueira Diogo D Virdi Sanamjeet S Indenbirken Daniela D Depke Maren M Salazar Manuela Gesell MG Völker Uwe U Braren Ingke I Pu William T WT Eschenhagen Thomas T Hammer Elke E Schlossarek Saskia S Carrier Lucie L

Cells 20220902 17

Genetic variants in α-actinin-2 (ACTN2) are associated with several forms of (cardio)myopathy. We previously reported a heterozygous missense (c.740C>T) <i>ACTN2</i> 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 functional knock-out hiPSC lines with a second wild-type (ACTN2wt) and missense AC ...[more]

PMID: 36078153

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