Fig. 1

Generation and characterization of CHD8 ^+/− lines. a Design of CRISPR guide sgRNA sequences targeting the N-terminal end of CHD8. The red marks Ser62 where premature stop codon mutations were uncovered from whole exome-sequencing analysis of ASD individuals [16]. b DNA-sequencing analysis of CHD8 ^+/− iPSC clones. Knockout alleles were identified by cloning of PCR products and Sanger sequencing. c Western blot analysis of CHD8 ^+/− NPCs. CHD8-specific antibodies were used to detect CHD8 protein in NPC lysates. A clone with homozygous CHD8 knockout (G2C2) was also analyzed, but this clone could not differentiate into neurons appropriately and thus was not included in our RNA-seq analysis. d Validation of 2-bp (KO1, left) and 10-bp (KO2, right) deletion by RNA-seq reads. A screen shot of RNA-seq reads mapped to the CRISPR targeting regions, with gap showing deletion