Generation of the human iPSC line ESi132-A from a patient with retinitis pigmentosa caused by a mutation in the PRPF31 gene
Summary
Mutations in the PRPF31 gene are a well-known cause of autosomal dominant retinitis pigmentosa (RP), the most prevalent genetic form of blindness in adults, affecting 1 in 4,000 individuals globally. In this study, peripheral blood mononuclear cells from a patient carrying a heterozygous mutation in PRPF31 were reprogrammed to generate the human iPSC line ESi132-A. This cell line was thoroughly characterized for self-renewal and pluripotency. These cells will be used to develop advanced 3D biomodels based on multi-ocular cell differentiation to assess the efficacy of novel treatments for RP including innovative drug and gene therapies. Copyright © 2024 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Caballano Infantes E, Clauzon L, de la Cerda Haynes B, Díaz-Corrales F |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2025 Feb;82:103623 |
| PubMed | 39755010 |
| DOI | 10.1016/j.scr.2024.103623 |