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Article

Non-canonical roles of CFH in retinal pigment epithelial cells revealed by dysfunctional rare CFH variants

1 Jan 2025

Abstract excerpt

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). Our results show that lower factor H (FH) levels are...

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PMID: 39753135
DOI: 10.1016/j.stemcr.2024.11.015

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