Figure 4.

Differential gene expression between and across cardiac differentiation. (A) Differentially expressed genes between TOF-01 and Father TOF-01 for iPSCs versus CMs at d15 and CMs at d15 versus d60 (n = 3 for each individual and stage except CMs at d15 with n = 2). Patient-specific gene expression alterations at a specific state are shown in black and commonly altered gene expression (i.e., in both TOF-01 and Father TOF-01) are given in gray. The depicted genes are filtered for cardiac system-related genes. Multiple genes (> 2) of the same gene family are indicated by an asterisk. Differential gene expression is based on expressed autosomal protein-coding genes (adjusted P-value < 0.05, fold change > 2). (B) Overview of significantly differentially expressed genes (DEGs) in iPSCs and CMs of TOF-01 versus healthy individuals (Father TOF-01 and Mother TOF-02) and between differentiation stages of TOF-01 that are patient-specific (n = 3 for each individual and stage except CMs at d15 with n = 2 for TOF-01 and Father TOF-01). Cardiovascular-associated DEGs are listed and further marked if they overlap with findings based on genetic mutations, differential expression or methylation observed in our overall TOF cohort^5,22.