Key result
Patient-specific induced pluripotent stem cell-derived cardiomyocytes with the MYH7 E848G mutation exhibited reduced contractile function, confirming its pathogenic nature.
Population
Patient-specific induced pluripotent stem cell-derived cardiomyocytes carrying a novel MYH7 E848G mutation
Comparison
Patient-derived cardiomyocytes vs genome-edited isogenic cells
Design
In vitro cellular and engineered heart tissue study
Authors
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May support E848G pathogenicity in MYH7 cardiomyopathy; leaves clinical translation of iPSC models open.
The novel MYH7 E848G mutation causes reduced contractility in iPSC-CMs, likely due to impaired interaction with cardiac myosin binding protein C, confirming its pathogenic role in familial cardiomyopathy.
Yang et al. (2018) studied Familial cardiomyopathy. MYH7 E848G mutation vs. Genome-edited isogenic cells was evaluated on Contractile function. Patient-specific induced pluripotent stem cell-derived cardiomyocytes with the MYH7 E848G mutation exhibited reduced contractile function, confirming its pathogenic nature.
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