Proteomics

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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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20191112_HFx_EH_DZHKe_EHT_Pool_cMP2_3D_P47.raw Raw
20191112_HFx_EH_DZHKe_EHT_cMP2_180913_2D_P9.raw Raw
20191112_HFx_EH_DZHKe_EHT_cMP2_190116_3D_P43.raw Raw
20191112_HFx_EH_DZHKe_EHT_cMP2_190222_3D_P44.raw Raw
20191112_HFx_EH_DZHKe_EHT_cMP2_MS_E257_2D_P7.raw Raw
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Publications

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]

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