Figure 1.

Overview of CRISPR-Cas9 gene editing strategy and MAPRE2 expression in newly generated cell lines. (a) General overview of CRISPR/Cas9 gene editing strategy adapted from Yusa et al.¹⁷. (b) Overview of the different MAPRE2 genotypes generated. (c) RT-qPCR mRNA expression levels of MAPRE2 exon 6 and exon 8 normalized to GAPDH in non-differentiated iPSCs (n = 3). (d) Immunoblotting from non-differentiated iPSC whole cell protein lysate against MAPRE2 and β-Tubulin. Full length blot is included in Supplementary Fig. S3, f. (e) Western blot MAPRE2 protein expression levels normalized to β-Tubulin in non-differentiated iPSCs (n = 5). Q152*^KI mutants are normalized to WT/WT and N68S/N68S is normalized to N68S^IC/N68S^IC.