Cardiac differentiation of iPSCs with a Phospholamban p.Arg14del mutation

Impairment of the rough endoplasmic reticulum/mitochondria compartment in human cardiomyocytes with phospholamban p.Arg14del mutation.The phospholamban (PLN) p.Arg14del mutation belongs to the established causes of dilated cardiomyopathy, with the molecular disease mechanisms incompletely understood. We used human induced pluripotent stem cell (hiPSC)-derived cardiomyocytes, CRISPR/Cas9 gene editing and patient heart samples to investigate the molecular pathomechanisms of PLN p.Arg14del cardiomyopathy.RNA-seq sequencing reads were trimmed for residual adapter sequences and low quality 3' ends. For mapping, we used STAR (v.2.6.1a, default parameters) (Dobin et al. 2013) to align all RNA-seq datasets to the human genome.