Generation of an induced pluripotent stem cell line (SJTUGHi001-A) from a patient with Retinitis Pigmentosa carrying c.77C > T mutation in RAX2 gene
Summary
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. Copyright © 2024. Published by Elsevier B.V.
| Authors | Bai X, Chen J, Zhao X, Zhu X, Ding X, Zhang T, Jiang M, Sun X |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Mar 14;77:103390 |
| PubMed | 38507880 |
| DOI | 10.1016/j.scr.2024.103390 |