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

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

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....

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Main Authors: Angélique Terray, Amélie Slembrouck, Céline Nanteau, Christel Chondroyer, Christina Zeitz, José-Alain Sahel, Isabelle Audo, Sacha Reichman, Olivier Goureau
Format: Article
Language:English
Published: Elsevier 2017-10-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506117301587
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spelling doaj-8e9844f9a19d4290b8c0fb1f14eddb622020-11-24T21:25:06ZengElsevierStem Cell Research1873-50611876-77532017-10-0124C1410.1016/j.scr.2017.08.003Generation of an induced pluripotent stem cell (iPSC) line from a patient with autosomal dominant retinitis pigmentosa due to a mutation in the NR2E3 geneAngélique Terray0Amélie Slembrouck1Céline Nanteau2Christel Chondroyer3Christina Zeitz4José-Alain Sahel5Isabelle Audo6Sacha Reichman7Olivier Goureau8Institut de la Vision, Sorbonne Universités, UPMC Univ Paris 06, INSERM UMR_S968, CNRS UMR7210, 75012 Paris, FranceInstitut de la Vision, Sorbonne Universités, UPMC Univ Paris 06, INSERM UMR_S968, CNRS UMR7210, 75012 Paris, FranceInstitut de la Vision, Sorbonne Universités, UPMC Univ Paris 06, INSERM UMR_S968, CNRS UMR7210, 75012 Paris, FranceInstitut de la Vision, Sorbonne Universités, UPMC Univ Paris 06, INSERM UMR_S968, CNRS UMR7210, 75012 Paris, FranceInstitut de la Vision, Sorbonne Universités, UPMC Univ Paris 06, INSERM UMR_S968, CNRS UMR7210, 75012 Paris, FranceInstitut de la Vision, Sorbonne Universités, UPMC Univ Paris 06, INSERM UMR_S968, CNRS UMR7210, 75012 Paris, FranceInstitut de la Vision, Sorbonne Universités, UPMC Univ Paris 06, INSERM UMR_S968, CNRS UMR7210, 75012 Paris, FranceInstitut de la Vision, Sorbonne Universités, UPMC Univ Paris 06, INSERM UMR_S968, CNRS UMR7210, 75012 Paris, FranceInstitut de la Vision, Sorbonne Universités, UPMC Univ Paris 06, INSERM UMR_S968, CNRS UMR7210, 75012 Paris, FranceA 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.http://www.sciencedirect.com/science/article/pii/S1873506117301587
collection DOAJ
language English
format Article
sources DOAJ
author Angélique Terray
Amélie Slembrouck
Céline Nanteau
Christel Chondroyer
Christina Zeitz
José-Alain Sahel
Isabelle Audo
Sacha Reichman
Olivier Goureau
spellingShingle Angélique Terray
Amélie Slembrouck
Céline Nanteau
Christel Chondroyer
Christina Zeitz
José-Alain Sahel
Isabelle Audo
Sacha Reichman
Olivier Goureau
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
author_facet Angélique Terray
Amélie Slembrouck
Céline Nanteau
Christel Chondroyer
Christina Zeitz
José-Alain Sahel
Isabelle Audo
Sacha Reichman
Olivier Goureau
author_sort Angélique Terray
title 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
title_short 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
title_full 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
title_fullStr 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
title_full_unstemmed 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
title_sort 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
publisher Elsevier
series Stem Cell Research
issn 1873-5061
1876-7753
publishDate 2017-10-01
description 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.
url http://www.sciencedirect.com/science/article/pii/S1873506117301587
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