Transcriptome analysis of patient derived induced pluripotent stem cell derived cardiomyocytes with severe, early onset hypertrophic cardiomyopathy due to biallelic MYBPC3 variants c.442G>A and c.506-1G>A
Induced pluripotent stem cells (iPSCs) were generated from a patient with severe, early onset hypertrophic cardiomyopathy due to pathogenic (c.506-1G>A) and low penetrance pathogenic (c.442G>A) variants in MYBPC3 in trans (i.e. MYBPC3 biallelic patient). Healthy control (WTC11, Coriell repository) iPSCs were used as reference. iPSCs were differentiated into cardiomyocytes for transcriptome analysis and assessment of the c.442G>A variant on MYBPC3 splicing. Overall design: The biallelic patient derived iPSCs (iPSC31 cell line) and control iPSCs were differentiated into cardiomyocytes in monolayers then purified through lactate metabolic selection. Purified iPSC derived cardiomyocytes were then collected at ~day 24 after differentiation. 3 samples from 3 differentiation batches were collected for bulk RNA sequencing.