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Peer-reviewedCC BY-NC-NDStem Cell Research

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)

Abstract

A 3–4 sentence description of the resource, generation rationale and approach, the methodology used and main properties/applications. The p.Pro23His (c.68C > A; P23H) mutation leads to an autosomal dominant retinitis pigmentosa (adRP). Here we reprogrammed adRP patient fibroblast in human induced pluripotent stem cells (hiPSCs) using Sendai virus. Thus, we generated two mutated hiPSC clones and three isogenic controls using CRISPR/Cas9. All the five hiPSC lines expressing pluripotency genes are able to differentiate into the three germ layers and retinal organoids. Altogether these hiPSCs constitute unique biological tools to elucidate mechanisms of adRP linked to the RHO-P23H mutation.

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BibTeX
@article{clemencon2026generation,
  title = {{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)}},
  author = {Marilou Clémençon and Jérémy Brogard and Marie Rozen and Camille Hourton and Rodrigo Meléndez García and Stéphanie Bigou and Stephen Tsang and Olivier Thouvenin and Kate Grieve and Sacha Reichman},
  journal = {Stem Cell Research},
  year = {2026},
  month = oct,
  doi = {10.1016/j.scr.2026.104042},
  url = {https://hal.science/hal-05797269v1},
  note = {CC BY-NC-ND},
}
RIS
TY  - JOUR
TI  - 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)
AU  - Marilou Clémençon
AU  - Jérémy Brogard
AU  - Marie Rozen
AU  - Camille Hourton
AU  - Rodrigo Meléndez García
AU  - Stéphanie Bigou
AU  - Stephen Tsang
AU  - Olivier Thouvenin
AU  - Kate Grieve
AU  - Sacha Reichman
PY  - 2026
DA  - 2026/10/13
JO  - Stem Cell Research
DO  - 10.1016/j.scr.2026.104042
UR  - https://hal.science/hal-05797269v1
AB  - A 3–4 sentence description of the resource, generation rationale and approach, the methodology used and main properties/applications. The p.Pro23His (c.68C > A; P23H) mutation leads to an autosomal dominant retinitis pigmentosa (adRP). Here we reprogrammed adRP patient fibroblast in human induced pluripotent stem cells (hiPSCs) using Sendai virus. Thus, we generated two mutated hiPSC clones and three isogenic controls using CRISPR/Cas9. All the five hiPSC lines expressing pluripotency genes are able to differentiate into the three germ layers and retinal organoids. Altogether these hiPSCs constitute unique biological tools to elucidate mechanisms of adRP linked to the RHO-P23H mutation.
SN  - 1876-7753
ER  -