Patient-derived induced pluripotent stem cells with a MERTK mutation exhibit cell junction abnormalities and aberrant cellular differentiation potential

Figure 1 Identification of the MERTK mutation in the retinitis pigmentosa patient. A: Family pedigree; B: Sanger sequencing of the healthy control and the retinitis pigmentosa (RP) patient. Two-base deletion of CA in the RP patient (red arrows); C: Protein translation of the healthy control and RP patient. The 99^th threonine was replaced by serine in the RP patient (green arrows), resulting in the emergence of a new reading frame, leading to translation termination at the 8^th codon downstream; D: MERTK protein structure prediction of the healthy control and the RP patient; E: MERTK gene expression in ophthalmic tissue.