Fig. 2

Transcriptome analysis of iPSC-derived cardiac fibroblasts from DMD and control patients. sPLS-DA was used to select genes that discriminate between DMD (black) and CON (grey) samples. iPS derived cardiac fibroblasts were obtained from 3 DMD patients and 3 healthy donors. One control and one DMD were run in duplicate. A: Individual plot shows that component 1 (x-axis) captured the variance between groups and that component 2 (y-axis) consisted mainly of inter-group variation. B: Variable (gene) plot of selected genes (keepX set to 400 per component) either up in DMD (red) or up in CON (blue). The x and y axes correspond to the sample placement of Fig. 2A. Black points were discarded either because the y-position was more significant than the x-position or if that gene had a vip-score of < 1. C: Heatmap of differentially expressed genes selected from Fig. 2B.The row annotation colors are as in Fig. 2B (Up in DMD (red) and Up in CON (blue)). The column annotation is colored as in Fig. 2A. Normalized RNA expression is row-scaled so that red and blue indicate expression above or below the row mean. EnrichR was used to find significantly enriched pathways with the DMD up-regulated genes, as selected by sPLS-DA, using both D: Kyoto encyclopedia of genes and genomesdatabase (KEGG2021)as well as the E: human metabolic pathways database (HumanCyc 2016). Bar length is indicative of significance (− Log10(P.Value)). Principal enriched pathways include TCA cycle metabolism, gluconeogenesisand glycolysis