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

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. Overall design: 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.