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Study generated unique hiPSC lines to study retinitis pigmentosa in patients, indicating potential for research advancements.
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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Clémençon et al. (2026) studied this question.
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