Effect of PTCHD1 SNV and truncating variants on gene expression during differentiation of iPSCs to neural progenitor cells

To investigate whether a SNV in the gene PTCHD1 was disease causative, we introduced the variant to KOLF-2 iPSCs via CRISPR/Cas9 homology directed repair. Three experimentally matched SNV and WT clones and two clones with truncating mutations were generated, and neural induction was induced. We then performed gene expression profiling analysis using data obtained from RNA-seq of these cells at two timepoints (day 0 and day 24 of neural induction). Comparative gene expression profiling analysis of RNA-seq data for PTCHD1_WT, SNV and trunc KOLF-2 iPSCs and their derived neural progenitor cells.