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. 2020 Jul 2;10:10921. doi: 10.1038/s41598-020-67872-z

Figure 5.

Figure 5

Differential gene expression and impact of variations. (A) Expression level of FBLN2 and DAAM2 in iPSCs and CMs of TOF patients and healthy individuals (n = 3 for each individual except CMs at d15 with n = 2 for TOF-01 and Father TOF-01; n = 0 for TOF-02 & sister TOF-01 at d15 & d60) as well as in the right ventricle of TOF patients and normal heart individuals. Both transcripts, which harbor mutations in TOF-01, were significantly differentially expressed between TOF-01 and Father TOF-01 in CMs at d60. (B) Impact of regulatory SNVs on transcriptional alterations. Linear mixed models were applied to all, highly and low/middle expressed autosomal protein-coding transcripts harboring I) SNVs called by WGS in the blood samples (‘GT blood’), II) SNVs called by WGS and confirmed by RNA-seq in the blood samples (‘RNAseq GT blood’) and III) SNVs called by WGS in the pooled iPSC samples and confirmed by RNA-seq of the individual clones (‘RNA-seq GT Pooled iPSCs’). GT: genotype; SNVs: single nucleotide variations.