Establishment of an induced pluripotent stem cell line (FRIMOi005-A) derived from a retinitis pigmentosa patient carrying a dominant mutation in RHO gene

Establishment of an induced pluripotent stem cell line (FRIMOi005-A) derived from a retinitis pigmentosa patient carrying a dominant mutation in RHO gene

Retinitis pigmentosa (RP) is an inherited retinal dystrophy characterized by the progressive degeneration of photoreceptors. In the present study, we have generated an induced pluripotent stem cell (iPSC) line derived from a RP patient with a dominant mutation in the RHO gene, responsible for the sy...

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Main Authors: Judit Domingo-Prim, Marina Riera, Anniken Burés-Jelstrup, Borja Corcostegui, Esther Pomares
Format: Article
Language:English
Published: Elsevier 2019-07-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506119300984
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spelling doaj-94863a7ae28b4c099f5d4638c26dc42e2020-11-24T21:37:54ZengElsevierStem Cell Research1873-50612019-07-0138Establishment of an induced pluripotent stem cell line (FRIMOi005-A) derived from a retinitis pigmentosa patient carrying a dominant mutation in RHO geneJudit Domingo-Prim0Marina Riera1Anniken Burés-Jelstrup2Borja Corcostegui3Esther Pomares4Fundació de Recerca de l'Institut de Microcirurgia Ocular, Barcelona, Spain; Departament de Genètica, Institut de Microcirurgia Ocular (IMO), Barcelona, SpainFundació de Recerca de l'Institut de Microcirurgia Ocular, Barcelona, Spain; Departament de Genètica, Institut de Microcirurgia Ocular (IMO), Barcelona, Spain; Corresponding authors at: C/ Josep Mª Lladó, 3, 08035 Barcelona, Spain.Fundació de Recerca de l'Institut de Microcirurgia Ocular, Barcelona, Spain; Departament de Retina, Institut de Microcirurgia Ocular (IMO), Barcelona, SpainFundació de Recerca de l'Institut de Microcirurgia Ocular, Barcelona, Spain; Departament de Retina, Institut de Microcirurgia Ocular (IMO), Barcelona, SpainFundació de Recerca de l'Institut de Microcirurgia Ocular, Barcelona, Spain; Departament de Genètica, Institut de Microcirurgia Ocular (IMO), Barcelona, Spain; Corresponding authors at: C/ Josep Mª Lladó, 3, 08035 Barcelona, Spain.Retinitis pigmentosa (RP) is an inherited retinal dystrophy characterized by the progressive degeneration of photoreceptors. In the present study, we have generated an induced pluripotent stem cell (iPSC) line derived from a RP patient with a dominant mutation in the RHO gene, responsible for the synthesis of rhodopsin. The reprogramming of these iPSCs was performed from skin fibroblasts by the Sendai-virus based approach. Characterization of the iPSC line showed a normal karyotype carrying the RHO mutation, expressed pluripotency markers and could be differentiated to endoderm, mesoderm and ectoderm in vitro.http://www.sciencedirect.com/science/article/pii/S1873506119300984
collection DOAJ
language English
format Article
sources DOAJ
author Judit Domingo-Prim
Marina Riera
Anniken Burés-Jelstrup
Borja Corcostegui
Esther Pomares
spellingShingle Judit Domingo-Prim
Marina Riera
Anniken Burés-Jelstrup
Borja Corcostegui
Esther Pomares
Establishment of an induced pluripotent stem cell line (FRIMOi005-A) derived from a retinitis pigmentosa patient carrying a dominant mutation in RHO gene
Stem Cell Research
author_facet Judit Domingo-Prim
Marina Riera
Anniken Burés-Jelstrup
Borja Corcostegui
Esther Pomares
author_sort Judit Domingo-Prim
title Establishment of an induced pluripotent stem cell line (FRIMOi005-A) derived from a retinitis pigmentosa patient carrying a dominant mutation in RHO gene
title_short Establishment of an induced pluripotent stem cell line (FRIMOi005-A) derived from a retinitis pigmentosa patient carrying a dominant mutation in RHO gene
title_full Establishment of an induced pluripotent stem cell line (FRIMOi005-A) derived from a retinitis pigmentosa patient carrying a dominant mutation in RHO gene
title_fullStr Establishment of an induced pluripotent stem cell line (FRIMOi005-A) derived from a retinitis pigmentosa patient carrying a dominant mutation in RHO gene
title_full_unstemmed Establishment of an induced pluripotent stem cell line (FRIMOi005-A) derived from a retinitis pigmentosa patient carrying a dominant mutation in RHO gene
title_sort establishment of an induced pluripotent stem cell line (frimoi005-a) derived from a retinitis pigmentosa patient carrying a dominant mutation in rho gene
publisher Elsevier
series Stem Cell Research
issn 1873-5061
publishDate 2019-07-01
description Retinitis pigmentosa (RP) is an inherited retinal dystrophy characterized by the progressive degeneration of photoreceptors. In the present study, we have generated an induced pluripotent stem cell (iPSC) line derived from a RP patient with a dominant mutation in the RHO gene, responsible for the synthesis of rhodopsin. The reprogramming of these iPSCs was performed from skin fibroblasts by the Sendai-virus based approach. Characterization of the iPSC line showed a normal karyotype carrying the RHO mutation, expressed pluripotency markers and could be differentiated to endoderm, mesoderm and ectoderm in vitro.
url http://www.sciencedirect.com/science/article/pii/S1873506119300984
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