Generation of an iPSC line, INMi001-A, carrying the two most common USH2A mutations from a compound heterozygote with non-syndromic retinitis pigmentosa

Generation of an iPSC line, INMi001-A, carrying the two most common USH2A mutations from a compound heterozygote with non-syndromic retinitis pigmentosa

We generated an induced pluripotent stem cell (iPSC) line from a patient with non-syndromic retinitis pigmentosa who is a compound heterozygote for the two most frequent USH2A variants, c.2276G > T and c.2299delG localized in exon 13. Patient fibroblasts were reprogrammed using the non-integrativ...

Full description

Bibliographic Details
Main Authors: Carla Sanjurjo-Soriano, Nejla Erkilic, Gaël Manes, Gregor Dubois, Christian P. Hamel, Isabelle Meunier, Vasiliki Kalatzis
Format: Article
Language:English
Published: Elsevier 2018-12-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506118302721
id doaj-e4d097725577410db45b55eb1c2b6612
record_format Article
spelling doaj-e4d097725577410db45b55eb1c2b66122020-11-24T23:29:02ZengElsevierStem Cell Research1873-50612018-12-0133228232Generation of an iPSC line, INMi001-A, carrying the two most common USH2A mutations from a compound heterozygote with non-syndromic retinitis pigmentosaCarla Sanjurjo-Soriano0Nejla Erkilic1Gaël Manes2Gregor Dubois3Christian P. Hamel4Isabelle Meunier5Vasiliki Kalatzis6Inserm U1051, Institute for Neurosciences of Montpellier, Montpellier, France; University of Montpellier, Montpellier, FranceInserm U1051, Institute for Neurosciences of Montpellier, Montpellier, France; University of Montpellier, Montpellier, FranceInserm U1051, Institute for Neurosciences of Montpellier, Montpellier, France; University of Montpellier, Montpellier, FranceInserm U1051, Institute for Neurosciences of Montpellier, Montpellier, France; University of Montpellier, Montpellier, FranceInserm U1051, Institute for Neurosciences of Montpellier, Montpellier, France; University of Montpellier, Montpellier, France; Centre of Reference for Genetic Sensory Diseases, CHU, Montpellier, FranceInserm U1051, Institute for Neurosciences of Montpellier, Montpellier, France; University of Montpellier, Montpellier, France; Centre of Reference for Genetic Sensory Diseases, CHU, Montpellier, FranceInserm U1051, Institute for Neurosciences of Montpellier, Montpellier, France; University of Montpellier, Montpellier, France; Corresponding author at: Inserm U1051, INM, Hôpital St Eloi, BP 74103, 80 Avenue Augustin Fliche, 34091 Montpellier, France.We generated an induced pluripotent stem cell (iPSC) line from a patient with non-syndromic retinitis pigmentosa who is a compound heterozygote for the two most frequent USH2A variants, c.2276G > T and c.2299delG localized in exon 13. Patient fibroblasts were reprogrammed using the non-integrative Sendai virus reprogramming method and the human OSKM transcription factor cocktail. The generated cells were pluripotent and genetically stable. This iPSC line will be an important tool for studying the pathogenesis of these USH2A mutations and for developing treatments that, due their high prevalence, will target a large patient population.http://www.sciencedirect.com/science/article/pii/S1873506118302721
collection DOAJ
language English
format Article
sources DOAJ
author Carla Sanjurjo-Soriano
Nejla Erkilic
Gaël Manes
Gregor Dubois
Christian P. Hamel
Isabelle Meunier
Vasiliki Kalatzis
spellingShingle Carla Sanjurjo-Soriano
Nejla Erkilic
Gaël Manes
Gregor Dubois
Christian P. Hamel
Isabelle Meunier
Vasiliki Kalatzis
Generation of an iPSC line, INMi001-A, carrying the two most common USH2A mutations from a compound heterozygote with non-syndromic retinitis pigmentosa
Stem Cell Research
author_facet Carla Sanjurjo-Soriano
Nejla Erkilic
Gaël Manes
Gregor Dubois
Christian P. Hamel
Isabelle Meunier
Vasiliki Kalatzis
author_sort Carla Sanjurjo-Soriano
title Generation of an iPSC line, INMi001-A, carrying the two most common USH2A mutations from a compound heterozygote with non-syndromic retinitis pigmentosa
title_short Generation of an iPSC line, INMi001-A, carrying the two most common USH2A mutations from a compound heterozygote with non-syndromic retinitis pigmentosa
title_full Generation of an iPSC line, INMi001-A, carrying the two most common USH2A mutations from a compound heterozygote with non-syndromic retinitis pigmentosa
title_fullStr Generation of an iPSC line, INMi001-A, carrying the two most common USH2A mutations from a compound heterozygote with non-syndromic retinitis pigmentosa
title_full_unstemmed Generation of an iPSC line, INMi001-A, carrying the two most common USH2A mutations from a compound heterozygote with non-syndromic retinitis pigmentosa
title_sort generation of an ipsc line, inmi001-a, carrying the two most common ush2a mutations from a compound heterozygote with non-syndromic retinitis pigmentosa
publisher Elsevier
series Stem Cell Research
issn 1873-5061
publishDate 2018-12-01
description We generated an induced pluripotent stem cell (iPSC) line from a patient with non-syndromic retinitis pigmentosa who is a compound heterozygote for the two most frequent USH2A variants, c.2276G > T and c.2299delG localized in exon 13. Patient fibroblasts were reprogrammed using the non-integrative Sendai virus reprogramming method and the human OSKM transcription factor cocktail. The generated cells were pluripotent and genetically stable. This iPSC line will be an important tool for studying the pathogenesis of these USH2A mutations and for developing treatments that, due their high prevalence, will target a large patient population.
url http://www.sciencedirect.com/science/article/pii/S1873506118302721
work_keys_str_mv AT carlasanjurjosoriano generationofanipsclineinmi001acarryingthetwomostcommonush2amutationsfromacompoundheterozygotewithnonsyndromicretinitispigmentosa
AT nejlaerkilic generationofanipsclineinmi001acarryingthetwomostcommonush2amutationsfromacompoundheterozygotewithnonsyndromicretinitispigmentosa
AT gaelmanes generationofanipsclineinmi001acarryingthetwomostcommonush2amutationsfromacompoundheterozygotewithnonsyndromicretinitispigmentosa
AT gregordubois generationofanipsclineinmi001acarryingthetwomostcommonush2amutationsfromacompoundheterozygotewithnonsyndromicretinitispigmentosa
AT christianphamel generationofanipsclineinmi001acarryingthetwomostcommonush2amutationsfromacompoundheterozygotewithnonsyndromicretinitispigmentosa
AT isabellemeunier generationofanipsclineinmi001acarryingthetwomostcommonush2amutationsfromacompoundheterozygotewithnonsyndromicretinitispigmentosa
AT vasilikikalatzis generationofanipsclineinmi001acarryingthetwomostcommonush2amutationsfromacompoundheterozygotewithnonsyndromicretinitispigmentosa
_version_ 1725546842592116736

Similar Items