Fig. 3: Single-cell gene expression analysis of RPE with a gain of 1q shows discrete transcriptional changes.

a Expression of genes characteristic of RPE1q and RPEwt. All genes show statistically significant differences except for MITF. b scGSVA results for the KEGG libraries relevant to RPE cells. c scGSVA results for the libraries shown in (b), but comparing only the isogenic pairs of VUB04 and VUB07. d Expression of pro-survival, pro-apoptotic and effector genes, part of the apoptosis KEGG library, in the isogenic pairs of VUB04 and VUB07. In all panes, P-values shown above violin plots are unadjusted two-sided Wilcoxon rank-sum tests; for multi-gene comparisons, statistical significance was interpreted with Bonferroni correction. In a and b, n = 76.462 wt cells from 5 hPSC lines and n = 8732 cells with a 1q gain, from 2 hPSC lines. In c and d, numbers of cells are VUB041q = 8274, VUB04 = 10591, VUB071q = 458, VUB07 = 16658. The violin plots show a median line, and in b and c, 25th–75th percentile boxes.