Beta-Adrenergic Stimulation and MYH7 G256E Mutant Gene Dosage Drive Hypertrophic Cardiomyopathy Phenotype Penetrance

We characterized the baseline transcriptomic phenotype of day30 iPSC-Cardiomyocytes carrying hypertrophic cardiomyopathy associated heterozygous mutations MYH7 G256E and H251N using scRNAseq. We additionally analzyed trancriptomic signatures of HOM MYH7 G256E iPSC-CMs, and of HET MYH7 G256E iPSC-CMs after isopreterenol treatment. Our study includes the data of 7 independent scRNAsequencing runs using 10X Genomics characterizing the trancriptomic signature of the H251N and G256E mutation in iPSC-CMs. Individual conditions for each run is specified below. 10X CellPlex Feature barcoding technology was used to multiplex samples 2-7 for scRNAseq. Antibody-based labeling of CD29 and B2M and single indexing was used to multiplex sample 1. Please refer to each scRNAseq batch information for de-multiplexing settings used for this study. In the raw data, the FB files contain feature barcode sequencing information for sample multiplexing, while the GE files contain gene expression sequencing information.