Generation of iPSCs (RFSCi007-A, RFSCi008-A) from a patient with early-onset bilateral drusen and a healthy sibling for retinal disease modeling
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.
Authors
- Ritu Kumar (ORCID: https://orcid.org/0000-0002-9995-0078)
- Wendy Runyon
- Srinivas R. Sripathi (ORCID: https://orcid.org/0000-0001-6834-553X)
- Songhua Hu (ORCID: https://orcid.org/0000-0002-8266-6791)
- Rinki Ratnapriya
- Ajeet Singh (ORCID: https://orcid.org/0000-0002-0401-5598)
- Patrick Kennedy (ORCID: https://orcid.org/0000-0002-2524-6192)
- Karl G. Csaky (ORCID: https://orcid.org/0000-0002-5466-8829)
- Sonali Singh (ORCID: https://orcid.org/0000-0002-6066-3231)
Institutions
- Gladstone Institutes (US)
- Baylor College of Medicine (US)
- Retina Foundation of the Southwest (US)
- The University of Texas Southwestern Medical Center (US)
Publication Details
- Journal
- Stem Cell Research
- Published
- 2025-10-28
- DOI
- https://doi.org/10.1016/j.scr.2025.103862
- Primary Topic
- Retinal Diseases and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00