Deregulation of neuro-developmental genes and primary cilium cytoskeleton anomalies in iPSC retinal sheets from human syndromic ciliopathies

We generated iPSCs from control and ciliopathy cases and differentiated them into polarized 3D-adherent retinal sheets that could recapitulate normal photoreceptor development and disease state, respectively. Retinal sheets mRNA profiles at dau 60 of differentiation from 4 Ctrl, 2 MKS and 1 BBS patient in duplicate, using Ion Torrent platform.