Article
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).
Stem cell research - 1 Sept 2026
Clémençon Marilou, Brogard Jérémy, Rozen Marie, Hourton Camille, Meléndez García Rodrigo, Bigou Stéphanie, Tsang Stephen H, Thouvenin Olivier, Grieve Kate, Reichman Sacha
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
- Humans
- Retinitis Pigmentosa
- Induced Pluripotent Stem Cells
- CRISPR-Cas Systems
- Cell Line