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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| Format: | Article |
| Language: | English |
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Elsevier
2025-08-01
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| 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 |
| id | doaj-art-526766ff9e3e4e33a04c0200366e6aa2 |
| 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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