Generation of iPSCs (RFSCi007-A, RFSCi008-A) from a patient with early-onset bilateral drusen and a healthy sibling for retinal disease modeling
Summary
Drusen are extracellular deposits between the retinal pigment epithelium and Bruch's membrane, commonly linked to age-related macular degeneration (AMD). However, their presence in younger individuals offers a unique opportunity to study early disease mechanisms before extensive degeneration. We generated two human induced pluripotent stem cell (hiPSC) lines from siblings' peripheral blood mononuclear cells-one with early-onset bilateral drusen and the other unaffected. This genetically matched iPSC pair enables investigation of early drusen associated pathological changes driving retinal disease development. Copyright © 2025 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Singh S, Runyon W, Hu S, Kennedy PG, Singh A, Ratnapriya R, Kumar R, Csaky K, Sripathi SR |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2025 Oct 27;89:103862 |
| PubMed | 41172710 |
| DOI | 10.1016/j.scr.2025.103862 |