Fig. 2

Determination of endogenous WT and MUT ATXN3 allele expression ratios in SCA3 cell lines. a–d Results from ddPCR are presented as a mean WT and MUT ATXN3 transcript allele abundance, calculated based on results from both ATXN3 assays (ATXN3_SNP2 and ATXN3_SNP5), in patient-derived fibroblasts (a), iPSCs (b), NSCs (c), and neurons (d). These data were analyzed using unpaired t test. e Corresponding results to a–d presented for ATXN3_SNP2 and ATXN3_SNP5 assays separately and analyzed with two-way ANOVA with Tukey’s multiple comparison test for identification of any cell type-specific changes. In this graph, only WT allele abundance is presented, the MUT allele abundance equals a remainder to the sum of 100%). f Estimation of the total number (WT + MUT) of endogenous ATXN3 transcripts per diploid genome using ATXN3_SNP5 assay. Data were analyzed using one-way ANOVA with Tukey’s multiple comparison test. For all experiments presented in this figure n=3. Two-tailed p value < 0.05 was considered significant and is depicted in the figure by: *p < 0.05; **p < 0.01; ***p < 0.001; ****p < 0.0001. All data are presented as means ± SD. Individual data values are available in Additional File 13