Generation of a X-linked juvenile retinoschisis patient-derived induced pluripotent stem cell line ZOCi004-A
X-linked juvenile retinoschisis (XLRS), caused by the mutation of RS1 gene, is one of the most common causes of macular degeneration for male adolescents. The mutations and clinical manifestations of the disease are diverse. Neither the relationship between the genotypes and phenotypes, nor the radi...
| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2022-12-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506122002860 |
| _version_ | 1828172764077359104 |
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| author | Linyan Zhang Xinyu Liu Mingwei Huang Ping Xu Yanting Lai Yafen Liu Xiufeng Zhong Songshan Li Xiaoyan Ding |
| author_facet | Linyan Zhang Xinyu Liu Mingwei Huang Ping Xu Yanting Lai Yafen Liu Xiufeng Zhong Songshan Li Xiaoyan Ding |
| author_sort | Linyan Zhang |
| collection | DOAJ |
| description | X-linked juvenile retinoschisis (XLRS), caused by the mutation of RS1 gene, is one of the most common causes of macular degeneration for male adolescents. The mutations and clinical manifestations of the disease are diverse. Neither the relationship between the genotypes and phenotypes, nor the radical treatment like gene therapy has been found by now. Retrospective studies have shown that carbonic anhydrase inhibitors can help reduce cysts. However, the specifically pharmacological mechanism remains unknown. Here, we culture induced pluripotent stem cells by drawing peripheral blood from a patient with XLRS, which are supposed to facilitate related researches. |
| first_indexed | 2024-04-12T03:46:09Z |
| format | Article |
| id | doaj.art-304ea977cf3a45bb8edb10c4d84868db |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-04-12T03:46:09Z |
| publishDate | 2022-12-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-304ea977cf3a45bb8edb10c4d84868db2022-12-22T03:49:08ZengElsevierStem Cell Research1873-50612022-12-0165102937Generation of a X-linked juvenile retinoschisis patient-derived induced pluripotent stem cell line ZOCi004-ALinyan Zhang0Xinyu Liu1Mingwei Huang2Ping Xu3Yanting Lai4Yafen Liu5Xiufeng Zhong6Songshan Li7Xiaoyan Ding8State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangzhou, ChinaState Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangzhou, ChinaAegicare (Shenzhen) Technology Co., Ltd, Shenzhen, ChinaState Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangzhou, ChinaState Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangzhou, ChinaState Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangzhou, ChinaState Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangzhou, ChinaState Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangzhou, China; Corresponding authors.State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangzhou, China; Corresponding authors.X-linked juvenile retinoschisis (XLRS), caused by the mutation of RS1 gene, is one of the most common causes of macular degeneration for male adolescents. The mutations and clinical manifestations of the disease are diverse. Neither the relationship between the genotypes and phenotypes, nor the radical treatment like gene therapy has been found by now. Retrospective studies have shown that carbonic anhydrase inhibitors can help reduce cysts. However, the specifically pharmacological mechanism remains unknown. Here, we culture induced pluripotent stem cells by drawing peripheral blood from a patient with XLRS, which are supposed to facilitate related researches.http://www.sciencedirect.com/science/article/pii/S1873506122002860 |
| spellingShingle | Linyan Zhang Xinyu Liu Mingwei Huang Ping Xu Yanting Lai Yafen Liu Xiufeng Zhong Songshan Li Xiaoyan Ding Generation of a X-linked juvenile retinoschisis patient-derived induced pluripotent stem cell line ZOCi004-A Stem Cell Research |
| title | Generation of a X-linked juvenile retinoschisis patient-derived induced pluripotent stem cell line ZOCi004-A |
| title_full | Generation of a X-linked juvenile retinoschisis patient-derived induced pluripotent stem cell line ZOCi004-A |
| title_fullStr | Generation of a X-linked juvenile retinoschisis patient-derived induced pluripotent stem cell line ZOCi004-A |
| title_full_unstemmed | Generation of a X-linked juvenile retinoschisis patient-derived induced pluripotent stem cell line ZOCi004-A |
| title_short | Generation of a X-linked juvenile retinoschisis patient-derived induced pluripotent stem cell line ZOCi004-A |
| title_sort | generation of a x linked juvenile retinoschisis patient derived induced pluripotent stem cell line zoci004 a |
| url | http://www.sciencedirect.com/science/article/pii/S1873506122002860 |
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