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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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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