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Mutations in the PRPF31 gene are a well-known cause of autosomal dominant retinitis pigmentosa (RP), the most prevalent genetic form of blindness in adults, affecting 1 in 4,000 individuals globally. In this study, peripheral blood mononuclear cells from a patient carrying a heterozygous mutation in PRPF31 were reprogrammed to generate the human iPSC line ESi132-A. This cell line was thoroughly characterized for self-renewal and pluripotency. These cells will be used to develop advanced 3D biomodels based on multi-ocular cell differentiation to assess the efficacy of novel treatments for RP including innovative drug and gene therapies.
Male, QH301-705.5, Induced Pluripotent Stem Cells, Mutation, Humans, Cell Differentiation, Biology (General), Eye Proteins, Retinitis Pigmentosa, Cell Line
Male, QH301-705.5, Induced Pluripotent Stem Cells, Mutation, Humans, Cell Differentiation, Biology (General), Eye Proteins, Retinitis Pigmentosa, Cell Line
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