Deterioration of phagocytosis in induced pluripotent stem cell-derived retinal pigment epithelial cells established from patients with retinitis pigmentosa carrying Mer tyrosine kinase mutations

Retinitis pigmentosa (RP) is an incurable retinal degenerative disease with unknown mechanism of progression. Mer tyrosine kinase (MERTK), which encodes a receptor the Tyro3/Axl/Mer family kinases, one causal genes RP. MERTK reportedly expressed in pigment epithelium (RPE) and essential for phagocytosis photoreceptor outer segment. Here, we established induced pluripotent stem cells (iPSC) from patients RP having homozygous or compound heterozygous mutations MERTK, healthy subjects; patient- control-derived iPSCs were differentiated into RPE cells. Although cytoskeleton staining suggested that polarity may have been disturbed mildly, there no apparent morphological differences between diseased normal The internalization segments iPSC-RPE was significantly lower than This vitro model be useful elucidating mechanisms progression screening treatments disease.