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Generation of an induced pluripotent stem cell (iPSC) line from a patient with autosomal dominant retinitis pigmentosa due to a mutation in the NR2E3 gene.

Stem cell research - 1 Oct 2017

Terray Angélique, Slembrouck Amélie, Nanteau Céline, Chondroyer Christel, Zeitz Christina, Sahel José-Alain, Audo Isabelle, Reichman Sacha, Goureau Olivier

Abstract excerpt

A human iPSC line was generated from fibroblasts of a patient affected with autosomal dominant Retinitis Pigmentosa (RP) carrying the mutation p.Gly56Arg in the NR2E3 gene. The transgene-free iPSCs were generated with the human OSKM transcription factors using the Sendai-virus reprogramming system. iPSCs contained the expected c.166G>A substitution in exon 2 of NR2E3, expressed the expected pluripotency markers,...

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PMID: 29034877
DOI: 10.1016/j.scr.2017.08.003

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Generation of an induced pluripotent stem cell (iPSC) line from a patient with autosomal dominant retinitis pigmentosa due to a mutation in the NR2E3 gene.PMID 29034877Read ↗

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