Transcriptome analysis of hiPSC-CMs carrying MYPN mutations

In this study we performed transcriptome analysis of cardiomyocytes (CMs) derived from hiPSC line of patient with hypertrophic cardiomyopathy (HCM) associated with a novel p.N989I (c.2966A>T) variant in MYPN gene. Detailed information about iPSC line characterization can be found in hiPSCreg database: FAMRCi015-A. Mononuclear cells (MNCs) of the HCM patient were reprogrammed into hiPSC using the Epi5™ Episomal iPSC Reprogramming Kit user guide (Thermo Fisher Scientific, Waltham, MA, USA). The hiPSC line (AD3) was generated from human newborn fibroblasts (HNFs) of Healthy Donor using the lentiviral nonintegrating Sendai reprogramming kit (CytoTune-iPS 2.0 Sendai Reprogramming kit (Invitrogen, Paisley, UK) according to the manufacturer’s instructions and was used as control cells. Then hiPSC were differentiated into mature cardiomyocytes (45 days), according to a previously published protocol (https://doi.org/10.1002/cm.21922). RNA-libraries from Donor and HCM cardiomyocytes were prepared with TruSeq Stranded mRNA kit, samples were sequenced on Illumina NextSeq 2000, read length 51 bp.