Generation of human induced pluripotent stem cell lines from an age-related macular degeneration patient with hyperreflective foci overlying drusen (RFSCi002-A) and an unaffected sibling (RFSCi001-A)
Summary
Age-related macular degeneration (AMD) is a leading cause of vision loss, driven by retinal pigment epithelium (RPE) and photoreceptor degeneration. A key feature is drusen accumulation between the RPE and Bruch's membrane. In intermediate AMD, hyperreflective foci (HRF)-bright intraretinal lesions visible on optical coherence tomography (OCT) imaging-serve as biomarkers of disease progression. To study HRF mechanisms, we generated induced pluripotent stem cell (iPSC) lines from an AMD patient with HRF overlying drusen (RFSC4) and their unaffected sibling (RFSC3). These iPSC models offer a platform to explore disease mechanisms and develop therapies for AMD. Copyright © 2025 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Ashrafi A, Runyon W, Hu S, Kumar R, Catchpole T, Singh A, Ratnapriya R, Csaky KG, Sripathi SR |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2025 Apr 15;86:103715 |
| PubMed | 40273531 |
| DOI | 10.1016/j.scr.2025.103715 |