Establishment of an induced pluripotent stem (iPS) cell line from dermal fibroblasts of an asymptomatic patient with dominant PRPF31 mutation

Establishment of an induced pluripotent stem (iPS) cell line from dermal fibroblasts of an asymptomatic patient with dominant PRPF31 mutation

A human iPS cell line was generated from fibroblasts of a phenotypically unaffected patient from a family with PRPF31-associated retinitis pigmentosa (RP). The transgene-free iPS cells were generated with the human OSKM transcription factors using the Sendai-virus reprogramming system. iPS cells con...

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Main Authors: Angélique Terray, Victoire Fort, Amélie Slembrouck, Céline Nanteau, José-Alain Sahel, Sacha Reichman, Isabelle Audo, Olivier Goureau
Format: Article
Language:English
Published: Elsevier 2017-12-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506117302040
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spelling doaj-f0758e53ad46412d8f94f47cac7aea392020-11-24T20:40:16ZengElsevierStem Cell Research1873-50611876-77532017-12-0125C262910.1016/j.scr.2017.10.007Establishment of an induced pluripotent stem (iPS) cell line from dermal fibroblasts of an asymptomatic patient with dominant PRPF31 mutationAngélique Terray0Victoire Fort1Amélie Slembrouck2Céline Nanteau3José-Alain Sahel4Sacha Reichman5Isabelle Audo6Olivier Goureau7Institut 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 iPS cell line was generated from fibroblasts of a phenotypically unaffected patient from a family with PRPF31-associated retinitis pigmentosa (RP). The transgene-free iPS cells were generated with the human OSKM transcription factors using the Sendai-virus reprogramming system. iPS cells contained the expected c.709-734dup substitution in exon 8 of PRPF31, 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 unusual pattern of inheritance of PRPF31-associated RP.http://www.sciencedirect.com/science/article/pii/S1873506117302040
collection DOAJ
language English
format Article
sources DOAJ
author Angélique Terray
Victoire Fort
Amélie Slembrouck
Céline Nanteau
José-Alain Sahel
Sacha Reichman
Isabelle Audo
Olivier Goureau
spellingShingle Angélique Terray
Victoire Fort
Amélie Slembrouck
Céline Nanteau
José-Alain Sahel
Sacha Reichman
Isabelle Audo
Olivier Goureau
Establishment of an induced pluripotent stem (iPS) cell line from dermal fibroblasts of an asymptomatic patient with dominant PRPF31 mutation
Stem Cell Research
author_facet Angélique Terray
Victoire Fort
Amélie Slembrouck
Céline Nanteau
José-Alain Sahel
Sacha Reichman
Isabelle Audo
Olivier Goureau
author_sort Angélique Terray
title Establishment of an induced pluripotent stem (iPS) cell line from dermal fibroblasts of an asymptomatic patient with dominant PRPF31 mutation
title_short Establishment of an induced pluripotent stem (iPS) cell line from dermal fibroblasts of an asymptomatic patient with dominant PRPF31 mutation
title_full Establishment of an induced pluripotent stem (iPS) cell line from dermal fibroblasts of an asymptomatic patient with dominant PRPF31 mutation
title_fullStr Establishment of an induced pluripotent stem (iPS) cell line from dermal fibroblasts of an asymptomatic patient with dominant PRPF31 mutation
title_full_unstemmed Establishment of an induced pluripotent stem (iPS) cell line from dermal fibroblasts of an asymptomatic patient with dominant PRPF31 mutation
title_sort establishment of an induced pluripotent stem (ips) cell line from dermal fibroblasts of an asymptomatic patient with dominant prpf31 mutation
publisher Elsevier
series Stem Cell Research
issn 1873-5061
1876-7753
publishDate 2017-12-01
description A human iPS cell line was generated from fibroblasts of a phenotypically unaffected patient from a family with PRPF31-associated retinitis pigmentosa (RP). The transgene-free iPS cells were generated with the human OSKM transcription factors using the Sendai-virus reprogramming system. iPS cells contained the expected c.709-734dup substitution in exon 8 of PRPF31, 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 unusual pattern of inheritance of PRPF31-associated RP.
url http://www.sciencedirect.com/science/article/pii/S1873506117302040
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