Generation of an induced pluripotent stem cell line (SJTUGHi001-A) from a patient with Retinitis Pigmentosa carrying c.77C > T mutation in RAX2 gene
Copyright © 2024. Published by Elsevier B.V..
Retinitis pigmentosa (RP) is a group of genetically heterogeneous retinopathy resulting in irreversible loss of vision. Mutations in RAX2 gene has been related to RP with mechanisms unclear. Here, we generated a human induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells of a RP patient carrying c.77C > T mutation in RAX2 gene. This cell line was induced by integration-free episomal vectors and validated for pluripotency and differentiation capacity, which may serve as a model to study the role of RAX2 in RP pathogenesis.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2024 |
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| Erschienen: |
2024 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:77 |
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| Enthalten in: |
Stem cell research - 77(2024) vom: 14. März, Seite 103390 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Bai, Xinyue [VerfasserIn] |
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Date Revised 20.03.2024 published: Print-Electronic Citation Status Publisher |
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| doi: |
10.1016/j.scr.2024.103390 |
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| 520 | |a Copyright © 2024. Published by Elsevier B.V. | ||
| 520 | |a Retinitis pigmentosa (RP) is a group of genetically heterogeneous retinopathy resulting in irreversible loss of vision. Mutations in RAX2 gene has been related to RP with mechanisms unclear. Here, we generated a human induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells of a RP patient carrying c.77C > T mutation in RAX2 gene. This cell line was induced by integration-free episomal vectors and validated for pluripotency and differentiation capacity, which may serve as a model to study the role of RAX2 in RP pathogenesis | ||
| 650 | 4 | |a Journal Article | |
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| 700 | 1 | |a Zhao, Xiaohuan |e verfasserin |4 aut | |
| 700 | 1 | |a Zhu, Xinyue |e verfasserin |4 aut | |
| 700 | 1 | |a Ding, Xiaoyan |e verfasserin |4 aut | |
| 700 | 1 | |a Zhang, Ting |e verfasserin |4 aut | |
| 700 | 1 | |a Jiang, Mei |e verfasserin |4 aut | |
| 700 | 1 | |a Sun, Xiaodong |e verfasserin |4 aut | |
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