Fig. 5.

Like wild type, pigmented colonies formed by CLDN19^WT/G20D exhibited normal morphology and gene expression, but CLDN19^{G20D /G20D} colonies were malformed and under-expressed retinal pigment epithelium (RPE) signature and maturation genes. Analyses were performed on 80 days of differentiation (DD80). a A quantitative-real-time RT-PCR (qRT²-PCR) analysis compared expression relative to wild type. Error bars: SEM for three clones (**P < 0.01, ***P < 0.001). Dotted line, ±2× difference. b Immunostaining of RPE65 (cyan). Red fluorescent protein (RFP), expression of puromycin-RFP (magenta). Arrowheads indicate interface of RPE with the neurosensory retina; asterisks indicate cluster of pigmented cells. Scale bar, 20 µm