Fig. 4: Transcriptomic analysis of patient-derived NPCs and neurons.
A PCA plot of control and patient-derived iPSCs, NPCs and midbrain neurons indicating clear separation of the samples over the course of in vitro differentiation. Principal component (PC) 1 explains 69% of the total variance, whereas PC2 explains 25% of the total variance. N = Three biological replicates each. B, C Volcano plot of differentially expressed genes among control and L271H NPCs or neurons. Cutoffs: log2FC > |0.5| and adj. p-values < 1*10−5 D Venn diagram of overlapping up- or downregulated genes found in the patient-derived NPCs and neurons. E, F GO term analysis of upregulated genes in patient-derived NPCs or neurons. FDR = false-discovery rate G, H Networks of GO terms associated with upregulated genes found in the L271H NPCs and neurons. Colors highlight groups of similar GO-terms.
