Generation of an induced pluripotent stem cell line (SJTUGHi003-A) from a patient with Sorsby fundus dystrophy carrying c.484G>A mutation in TIMP3 gene
Summary
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. Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Zhu X, Tang L, Zhang T, Bai X, Chen J, Zhang L, Gong Y, Jiang M, Sun X |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Jun;77:103423 |
| PubMed | 38640637 |
| DOI | 10.1016/j.scr.2024.103423 |