SOX1 that plays an essential role in balancing cortical neural progenitor proliferation and differentiation59,60, whereas both unaffected parental lines upregulated PAX6 expression (Supp. Fig. 17). This downregulation of PAX6 expression in the BD-patient nEBs was in agreement with the reduced PAX6 expression observed by the NanoString profiles in the FACS-isolated CXCR4+ NPCs and by RNA-seq (Fig. 5A; Sup. Fig. 14). Taken together, these data suggest the dysregulation of PAX6 expression, a key regulator of corticogenesis, contributes to the neural differentiation deficit of the BD patient iPSCs from Family-811.
