Fig. 2

A Volcano plots of the calculated DEGs for each of the three tissues: iPSC-derived neurons, FCLs and LCLs. The number of over-expressed and under-expressed genes (absolute log₂FC > 1) are indicated for p-value < 0.05. B Heatmaps of the top 20 DEGs based on absolute log₂FC were generated for each tissue. Under-expressed genes are shown in blue and over-expressed genes in red. Hierarchical clustering was performed on samples and genes and a clear separation between patient and control is observed. C Validation of selected genes was performed using quantitative real-time PCR in patient and control samples of the three tissues. Statistical analysis was performed in LCL data, as it was the only tissue with 3 available biological replicates for each of the patient and control group, using Two sample t-test where data were normally distributed (GLDC, STK17B) and the Mann–Whitney U test, where data were non-normally distributed (ADAM23), as described in the methodology section. For iPSC-derived neurons and FCLs, statistical analysis was not performed due to the limited available sample size. The difference in the expression of genes between patients and controls in the two tissues is designated as non-statistically tested (nst). nst  non-statistically tested, ns non-significant, *p < 0.05, **p < 0.01, The DEGs with p-value < 0.05 are designated with *