Key result
hiPSC-derived cardiomyocytes with an RBM20 R636S mutation exhibited increased sarcomeric length (1.747 vs 1.404 µm; P<0.0001) and defective calcium handling compared to controls.
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hiPSC model implicates sarcomeric and calcium defects in RBM20 cardiomyopathy; hypothesis-generating for mechanisms and therapies.
Absolute Event Rate: 1.747% vs 1.404%
p-value: p=<0.0001
Wyles et al. (2015) studied RBM20 familial dilated cardiomyopathy (n=2). RBM20 R636S missense mutation vs. Control hiPSC-CMs was evaluated on Sarcomeric length (p=<0.0001). hiPSC-derived cardiomyocytes with an RBM20 R636S mutation exhibited increased sarcomeric length (1.747 vs 1.404 µm; P<0.0001) and defective calcium handling compared to controls.
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