Derivation of pluripotent stem cell lines (RFSCi005-A, RFSCi006-A) from siblings harboring identical high-risk complement variants with discordant age-related macular degeneration
Summary
Age-related macular degeneration (AMD) is a complex disease influenced by genetic and environmental factors. Variants in the complement pathway, especially in the CFH gene, increase AMD risk, yet disease severity can differ among individuals with identical high-risk genotypes. We generated induced pluripotent stem cell (iPSC) lines from siblings carrying identical high-risk complement variants but displaying discordant AMD phenotypes. These lines provide a unique platform to study epigenetic, transcriptomic, and environmental factors driving AMD heterogeneity. By comparing differentiated retinal cells, we aim to reveal mechanisms behind variable disease susceptibility and inform personalized therapies for AMD. Copyright © 2025 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Rajendran N, Singh A, Runyon W, Hu S, Kumar R, Ratnapriya R, Csaky K, Sripathi SR |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2025 Oct 21;89:103852 |
| PubMed | 41129903 |
| DOI | 10.1016/j.scr.2025.103852 |