Generation of retinitis pigmentosa patient-derived hiPSC lines (IDVi007-A, IDVi007-B) carrying the RHO c.68C > A variant (p.P23H) and CRISPR/Cas9-corrected isogenic hiPSC lines (IDVi007-A-1, IDVi007-A-2, IDVi007-A-3)
Summary
The p.Pro23His (c.68C > A; P23H) mutation leads to autosomal dominant retinitis pigmentosa (adRP). Here, we reprogrammed adRP patient fibroblasts in human induced pluripotent stem cells (hiPSCs) using Sendai virus. We then generated two mutated hiPSC clones and three isogenic controls using CRISPR/Cas9. All five hiPSC lines express pluripotency genes and are able to differentiate into the three germ layers as well as retinal organoids. Altogether, these hiPSCs constitute unique biological tools to elucidate mechanisms of adRP linked to the RHO-P23H mutation. Copyright © 2026 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Clémençon M, Brogard J, Rozen M, Hourton C, Meléndez García R, Bigou S, Tsang SH, Thouvenin O, Grieve K, Reichman S |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2026 Jun 19;95:104042 |
| PubMed | 42556251 |
| DOI | 10.1016/j.scr.2026.104042 |