Extended Data Fig. 1. Isogenic correction of the c.2T>C in patient iPSC lines.

a, Schematic representation of the KDM5C protein structure. Domains and the location of patient c.2T>C mutation are indicated. M166 is the predicted, alternative translational start codon for patients with the c.2T>C mutation. b, Western Blot analysis for KDM5C protein in patient Mutant (M) and Corrected (C1 and C2) cells in brother 1 (left, set 1) and brother 2 (right, set 2). 2 independent experiments with similar results were performed. Gels were run separately to see the entire lane stained with the KDM5C antibody in order to determine if there are any non-specific cross-reactivities of the KDM5C antibodies by comparing the Corrected cells with Mutant cells. For gel source data see Supplementary Fig. 1. c, Sanger sequencing results showing correction (red box) of the Mutation sequence (ACG) to the WT sequence (ATG) in Corrected 1 and Corrected 2 lines of brother 1 (set 1) and (d) brother 2 (set 2). e, Karyotype analysis of Mutant and Corrected 1 and Corrected 2 cells of brother 1 (set 1) and (f) brother 2 (set 2).