Generation of human induced pluripotent stem cell lines from three different male XLRS patients carrying RS1 gene mutation
X-linked retinoschisis (XLRS) is an inherited retinal disease caused by mutation in RS1 gene. Due to limited cell sources available for studying retinal disease, patient-derived induced pluripotent stem cells (iPSCs) offer an essential resource for developing XLRS disease models. In this study, we g...
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| Format: | Article |
| Language: | English |
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Elsevier
2025-03-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506125000157 |
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| author | Sang-Yun Kim Yong-Min Choi Yunho Park Seung-Hyun Kim Hyun Beom Song Jeong Hun Kim Ok-Seon Kwon Kyung-Sook Chung |
| author_facet | Sang-Yun Kim Yong-Min Choi Yunho Park Seung-Hyun Kim Hyun Beom Song Jeong Hun Kim Ok-Seon Kwon Kyung-Sook Chung |
| author_sort | Sang-Yun Kim |
| collection | DOAJ |
| description | X-linked retinoschisis (XLRS) is an inherited retinal disease caused by mutation in RS1 gene. Due to limited cell sources available for studying retinal disease, patient-derived induced pluripotent stem cells (iPSCs) offer an essential resource for developing XLRS disease models. In this study, we generated iPSC lines from three patients diagnosed with XLRS, each carrying distinct pathogenic RS1 variant (c.421C > T, c.130_140del and c.214G > A). These iPSC lines demonstrated pluripotency, in vitro differentiation potential, and a normal karyotype, making them valuable resource for investigating XLRS pathogenesis and for advancing therapeutic development. |
| format | Article |
| id | doaj-art-16786b49027240d59e284d02e4de95d2 |
| institution | Kabale University |
| issn | 1873-5061 |
| language | English |
| publishDate | 2025-03-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj-art-16786b49027240d59e284d02e4de95d22025-02-02T05:27:00ZengElsevierStem Cell Research1873-50612025-03-0183103665Generation of human induced pluripotent stem cell lines from three different male XLRS patients carrying RS1 gene mutationSang-Yun Kim0Yong-Min Choi1Yunho Park2Seung-Hyun Kim3Hyun Beom Song4Jeong Hun Kim5Ok-Seon Kwon6Kyung-Sook Chung7Center for Gene and Cell Therapy, Korea Research Institute of Bioscience and Biotechnology (KRIBB), Daejeon 34141 Republic of Korea; KRIBB School of Bioscience, Korea University of Science and Technology (UST), Daejeon 34141 Republic of KoreaCenter for Gene and Cell Therapy, Korea Research Institute of Bioscience and Biotechnology (KRIBB), Daejeon 34141 Republic of Korea; KRIBB School of Bioscience, Korea University of Science and Technology (UST), Daejeon 34141 Republic of KoreaCenter for Gene and Cell Therapy, Korea Research Institute of Bioscience and Biotechnology (KRIBB), Daejeon 34141 Republic of Korea; KRIBB School of Bioscience, Korea University of Science and Technology (UST), Daejeon 34141 Republic of KoreaCenter for Gene and Cell Therapy, Korea Research Institute of Bioscience and Biotechnology (KRIBB), Daejeon 34141 Republic of KoreaFightagainst Angiogenesis-Related Blindness (FARB) Laboratory, Biomedical Research Institute, Seoul National University Hospital, Seoul 03080 South Korea; Department of Ophthalmology, Seoul National University College of Medicine, Seoul 03080 South KoreaFightagainst Angiogenesis-Related Blindness (FARB) Laboratory, Biomedical Research Institute, Seoul National University Hospital, Seoul 03080 South Korea; Department of Ophthalmology, Seoul National University College of Medicine, Seoul 03080 South KoreaCenter for Gene and Cell Therapy, Korea Research Institute of Bioscience and Biotechnology (KRIBB), Daejeon 34141 Republic of Korea; KRIBB School of Bioscience, Korea University of Science and Technology (UST), Daejeon 34141 Republic of Korea; Corresponding authors.Center for Gene and Cell Therapy, Korea Research Institute of Bioscience and Biotechnology (KRIBB), Daejeon 34141 Republic of Korea; KRIBB School of Bioscience, Korea University of Science and Technology (UST), Daejeon 34141 Republic of Korea; Corresponding authors.X-linked retinoschisis (XLRS) is an inherited retinal disease caused by mutation in RS1 gene. Due to limited cell sources available for studying retinal disease, patient-derived induced pluripotent stem cells (iPSCs) offer an essential resource for developing XLRS disease models. In this study, we generated iPSC lines from three patients diagnosed with XLRS, each carrying distinct pathogenic RS1 variant (c.421C > T, c.130_140del and c.214G > A). These iPSC lines demonstrated pluripotency, in vitro differentiation potential, and a normal karyotype, making them valuable resource for investigating XLRS pathogenesis and for advancing therapeutic development.http://www.sciencedirect.com/science/article/pii/S1873506125000157 |
| spellingShingle | Sang-Yun Kim Yong-Min Choi Yunho Park Seung-Hyun Kim Hyun Beom Song Jeong Hun Kim Ok-Seon Kwon Kyung-Sook Chung Generation of human induced pluripotent stem cell lines from three different male XLRS patients carrying RS1 gene mutation Stem Cell Research |
| title | Generation of human induced pluripotent stem cell lines from three different male XLRS patients carrying RS1 gene mutation |
| title_full | Generation of human induced pluripotent stem cell lines from three different male XLRS patients carrying RS1 gene mutation |
| title_fullStr | Generation of human induced pluripotent stem cell lines from three different male XLRS patients carrying RS1 gene mutation |
| title_full_unstemmed | Generation of human induced pluripotent stem cell lines from three different male XLRS patients carrying RS1 gene mutation |
| title_short | Generation of human induced pluripotent stem cell lines from three different male XLRS patients carrying RS1 gene mutation |
| title_sort | generation of human induced pluripotent stem cell lines from three different male xlrs patients carrying rs1 gene mutation |
| url | http://www.sciencedirect.com/science/article/pii/S1873506125000157 |
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