iPSC-Based Modeling of Variable Clinical Presentation in Hypertrophic Cardiomyopathy.

Our results indicate that the p.Ile1927Phe variant of unknown significance in can be considered as a modifier of HCM expressivity when found in combination with truncating variants in . Overall, our studies show that iPSC-based modeling of clinically discordant subjects provides a unique platform to functionally assess the effect of genetic modifiers.