Multiplexed functional assessments of MYH7 variants in human cardiomyocytes at scale
Clayton E. Friedman, Shawn Fayer, Sriram Pendyala, Wei‐Ming Chien, Linda N. Tran, Leslie S. Chao, Ashley Mckinstry, Dania Ahmed, Alexander M. Loiben, Stephen D. Farris, April Stempien‐Otero, Erica C. Jonlin, Charles E. Murry, Lea M. Starita, Douglas M. Fowler, Kai‐Chun Yang
This study uses hiPSC-derived cardiomyocytes to assess MYH7 variants' effects, showing pathogenic variants reduce protein abundance and cell survival.
bioRxiv · Jul 28, 2023 · PreprintGenetics