Complement factor H (CFH) common genetic variants have been associated with age-related macular degeneration (AMD). While most previous in vitro RPE studies focused on the common p.His402Tyr CFH variant, we characterized rare CFH variants that are highly penetrant for AMD using induced pluripotent stem-cell-derived retinal pigment epithelium (iPSC-RPE).
View Article and Find Full Text PDFAge-related macular degeneration (AMD) is a major cause of vision loss among the elderly in the Western world. AMD is multifactorial eye disease with a strong genetic contribution. Here, we report the generation and characterization of induced pluripotent stem cells (iPSCs) derived from peripheral blood mononuclear cells of three patients with AMD carrying rare variants in the complement factor H (CFH) gene.
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