RNA sequencing of ESC/iPSC-derived purified PAX6-GFP neural progenitors form control and Phelan-Mcdermid patients

The goal of this study was to generated and transcriptionally analyze purified populations of Phelan-McDermid and control pluripotent stem cells-derived neural progenitors. This type of analysis allowed us to identify prevoisly unknown transcriptional phenotypic changes in patient neural progenitors which appear to be independent of functional synapses. Patient and control pluripotent stem cells were targeted by CRISPR/Cas9 and a PAX6-GFP reporter plasmid. Correctly modified clones were selected and subsequently differentiated into PAX6 expressing neural progenitors.