Key result
iPSC-derived cardiomyocytes from 12 individuals showed highly concordant transcriptomes (correlation coefficient 0.92 ± 0.02) and identified gene expression phenotypes consistent with MACE risk.
Why the study?
To better understand the functional and disease modeling potential of iPSC-differentiated CMs and provide proof of principle for large, epidemiological-scale disease gene discovery in cardiomyopathies.
Population
12 individuals from four sibships, one with reported MACE
Comparison
Genome-wide mRNA sequencing of generated CMs evaluating MACE effects
Design
In vitro molecular study
Authors
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iPSC-CM models may enable scalable cardiomyopathy gene discovery; leaves open clinical translation pending validation.
iPSC-derived cardiomyocytes demonstrate transcriptomic profiles consistent with primary heart tissue and can model gene expression phenotypes associated with major adverse cardiac events and cardiomyopathies.
Kumar et al. (2021) studied Cardiomyopathies (n=12). Major adverse cardiac event (MACE) history vs. No MACE history was evaluated on Transcriptomic profile and functional annotation. iPSC-derived cardiomyocytes from 12 individuals showed highly concordant transcriptomes (correlation coefficient 0.92 ± 0.02) and identified gene expression phenotypes consistent with MACE risk.
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