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

Abstract : 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, displayed in vivo differentiation potential to the three germ layers and had normal karyotype. This cellular model will provide a powerful tool to study the pathogenesis of NR2E3-associated RP.
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Soumis le : vendredi 3 novembre 2017 - 15:39:05
Dernière modification le : jeudi 11 janvier 2018 - 01:50:39

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Angélique Terray, Amélie Slembrouck, Céline Nanteau, Christel Chondroyer, Christina Zeitz, et al.. 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, Elsevier, 2017, 24, pp.1-4. 〈10.1016/j.scr.2017.08.003〉. 〈hal-01628496〉

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