| Autor: |
Xinyue Zhu, Lu Tang, Ting Zhang, Xinyue Bai, Jieqiong Chen, Lei Zhang, Yuanyuan Gong, Mei Jiang, Xiaodong Sun |
| Jazyk: |
angličtina |
| Rok vydání: |
2024 |
| Předmět: |
|
| Zdroj: |
Stem Cell Research, Vol 77, Iss , Pp 103423- (2024) |
| Druh dokumentu: |
article |
| ISSN: |
1873-5061 |
| DOI: |
10.1016/j.scr.2024.103423 |
| Popis: |
Sorsby fundus dystrophy (SFD) is a rare autosomal dominant disorder with macular dystrophy and severe visual loss. Mutations in TIMP3 gene has been related to SFD with mechanisms unclear. We have successfully reprogrammed the peripheral blood mononuclear cells (PBMCs) from an SFD patient carrying c.484G>A mutation in TIMP3 gene to induced pluripotent stem cells (iPSCs) and characterized their pluripotency and genetic stability. This line may serve as a useful tool to explore the role of TIMP3 in SFD pathogenesis. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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