Article
Generation of human P347L RHO-associated retinitis pigmentosa iPSC lines by a mutation insertion in the RHODOPSIN gene carrying the RHO c.1040C > T variant using CRISPR/Cas9.
Stem cell research - 1 Jun 2026
Clémençon Marilou, Brogard Jérémy, Rozen Marie, Hourton Camille, García Rodrigo Meléndez, Goureau Olivier, Bigou Stéphanie, Reichman Sacha
Abstract excerpt
The P347L RHODOPSIN-related retinal dystrophy leads an autosomal dominant Retinitis Pimentosa. Here we describe the generation of two isogenic human induced pluripotent stem cell (hiPSC) lines carrying the mutation c.1040C > T, p.Pro347Leu in the RHODOPSIN gene using CRISPR/Cas9 engineering from a control hiPSC clone. The two generated hiPSC lines can be differentiated in all the three germ layers, showed...
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