Fig. 3

(A)FMR1 mRNA levels are shown as a percentage of GUSB mRNA in H1 ESCs carrying a typical FMR1 allele with 30 CGG repeats, FRDA MSH2 WT and FRDA MSH2 KO iPSCs carrying typical FMR1 alleles with 30 CGG repeats, and FXS MSH2 WT and FXS MSH2 KO ESCs carrying a FX allele with 400 CGG repeats. Data shown are an average from two replicates for H1 ESCs. For FRDA iPSCs, the data shown are an average of two replicates from two individual iPSCs lines each for MSH2 WT and MSH2 KO. For FXS ESCs, data shown are an average of two individual lines each for MSH2 WT and MSH2 KO. Error bars represent standard deviation. n.s., not significant. (B) Bulk CGG-repeat PCR in two individual cell lines each for FXS MSH2 WT and FXS MSH2 KO is shown at indicated times in culture with and without predigestion of genomic DNA with methylation-sensitive HpaII. 1 month (approximately 40–50 days), 2 months (approximately 70–80 days) and 3 months (approximately 100–110 days). (C) Small pool CGG repeat PCR for FXS MSH2 WT-2 and FXS MSH2 KO-2 lines at 3 months