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)

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...

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Main Authors: Adnin Ashrafi, Wendy Runyon, Sam Hu, Ritu Kumar, Timothy Catchpole, Ajeet Singh, Rinki Ratnapriya, Karl G. Csaky, Srinivasa R. Sripathi
Format: Article
Language:English
Published: Elsevier 2025-08-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506125000650
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author Adnin Ashrafi
Wendy Runyon
Sam Hu
Ritu Kumar
Timothy Catchpole
Ajeet Singh
Rinki Ratnapriya
Karl G. Csaky
Srinivasa R. Sripathi
author_facet Adnin Ashrafi
Wendy Runyon
Sam Hu
Ritu Kumar
Timothy Catchpole
Ajeet Singh
Rinki Ratnapriya
Karl G. Csaky
Srinivasa R. Sripathi
author_sort Adnin Ashrafi
collection DOAJ
description 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.
format Article
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institution OA Journals
issn 1873-5061
language English
publishDate 2025-08-01
publisher Elsevier
record_format Article
series Stem Cell Research
spelling doaj-art-526766ff9e3e4e33a04c0200366e6aa22025-08-20T02:09:07ZengElsevierStem Cell Research1873-50612025-08-018610371510.1016/j.scr.2025.103715Generation 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)Adnin Ashrafi0Wendy Runyon1Sam Hu2Ritu Kumar3Timothy Catchpole4Ajeet Singh5Rinki Ratnapriya6Karl G. Csaky7Srinivasa R. Sripathi8Henderson Ocular Stem Cell Laboratory, Retina Foundation of the Southwest, Dallas, TX 75231, USAStem Cell Core, Gladstone Institutes, San Francisco, CA 94158, USAStem Cell Core, Gladstone Institutes, San Francisco, CA 94158, USAStem Cell Core, Gladstone Institutes, San Francisco, CA 94158, USAMolecular Ophthalmology Laboratory, Clinical Center of Innovation for AMD, Retina Foundation of the Southwest, Dallas, TX 75231, USADepartment of Ophthalmology, Baylor College of Medicine, Houston, TX 77030, USADepartment of Ophthalmology, Baylor College of Medicine, Houston, TX 77030, USAMolecular Ophthalmology Laboratory, Clinical Center of Innovation for AMD, Retina Foundation of the Southwest, Dallas, TX 75231, USA; Department of Ophthalmology, University of Texas Southwestern Medical Center, Dallas, TX 75390, USAHenderson Ocular Stem Cell Laboratory, Retina Foundation of the Southwest, Dallas, TX 75231, USA; Department of Ophthalmology, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA; Corresponding author.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.http://www.sciencedirect.com/science/article/pii/S1873506125000650
spellingShingle Adnin Ashrafi
Wendy Runyon
Sam Hu
Ritu Kumar
Timothy Catchpole
Ajeet Singh
Rinki Ratnapriya
Karl G. Csaky
Srinivasa R. Sripathi
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)
Stem Cell Research
title 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)
title_full 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)
title_fullStr 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)
title_full_unstemmed 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)
title_short 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)
title_sort 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
url http://www.sciencedirect.com/science/article/pii/S1873506125000650
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