Fig. 2.

C9orf72 protein abundance is not affected by excision of the repeat expansion or excision of either mutant or WT allele. Quantification of C9orf72 protein expression by WES relative to GAPDH in neurons derived from unedited and edited C9 (A–C) and WT (D and E) iPSCs 2 wk post induction of neuronal differentiation. C9orf72 protein levels were not affected by edits, except for biallelic 1A excision, which reduced protein levels in WT neurons, or homozygous gene KO, which abolished protein signal in both C9 and WT neurons. (1-way ANOVA: C9: F(5,12) = 94.81, P < 0.0001; WT: F(4,10) = 32.98, P < 0.0001; Dunnett’s multiple comparison test *P < 0.05, ****P < 0.0001). (C) There was no significant difference in the amount of C9orf72 protein produced from either the unedited WT or C9-patient line (P = 0.43; two-tailed t test). Error bars = SEM.