Generation of an induced pluripotent stem cell line (FRIMOi002-A) from a retinitis pigmentosa patient carrying compound heterozygous mutations in USH2A gene

Generation of an induced pluripotent stem cell line (FRIMOi002-A) from a retinitis pigmentosa patient carrying compound heterozygous mutations in USH2A gene

A human induced pluripotent stem cell (iPSC) line was generated from a female patient affected by autosomal recessive retinitis pigmentosa with two mutations in the USH2A gene: c.2209C > T (p.Arg737Ter) and c.8693A > C (p.Tyr2898Ser). Skin fibroblasts were infected with Sendai virus containing...

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Main Authors: Marina Riera, Achchhe Patel, Borja Corcostegui, Stanley Chang, Barbara Corneo, Janet R. Sparrow, Esther Pomares
Format: Article
Language:English
Published: Elsevier 2019-03-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506119300145
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spelling doaj-3422b5ba16d44af79ef31d9c5adc7ab52020-11-24T21:17:00ZengElsevierStem Cell Research1873-50612019-03-0135Generation of an induced pluripotent stem cell line (FRIMOi002-A) from a retinitis pigmentosa patient carrying compound heterozygous mutations in USH2A geneMarina Riera0Achchhe Patel1Borja Corcostegui2Stanley Chang3Barbara Corneo4Janet R. Sparrow5Esther Pomares6Fundació de Recerca de l'Institut de Microcirurgia Ocular, Barcelona, Spain; Departament de Genètica, Institut de Microcirurgia Ocular (IMO), Barcelona, Spain; Stem Cell Core Facility, Columbia University, New York (NY), USA; Department of Ophthalmology, Columbia University, New York (NY), USA; Corresponding authors at: C/Josep Mª Lladó, 3, 08035 Barcelona, Spain.Stem Cell Core Facility, Columbia University, New York (NY), USAFundació de Recerca de l'Institut de Microcirurgia Ocular, Barcelona, Spain; Departament de Retina, Institut de Microcirurgia Ocular (IMO), Barcelona, SpainDepartment of Ophthalmology, Columbia University, New York (NY), USAStem Cell Core Facility, Columbia University, New York (NY), USADepartment of Ophthalmology, Columbia University, New York (NY), USAFundació 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.A human induced pluripotent stem cell (iPSC) line was generated from a female patient affected by autosomal recessive retinitis pigmentosa with two mutations in the USH2A gene: c.2209C > T (p.Arg737Ter) and c.8693A > C (p.Tyr2898Ser). Skin fibroblasts were infected with Sendai virus containing the Yamanaka factors and the resulting cells were fully characterized to confirm successful reprogramming. The iPSC line expressed several pluripotency markers, could generate the three germ layers, had a normal karyotype, carried the two USH2A mutations and was free of Sendai virus. This cell line will serve as a model to unravel the pathogenic mechanisms underlying USH2A-associated retinal degeneration.http://www.sciencedirect.com/science/article/pii/S1873506119300145
collection DOAJ
language English
format Article
sources DOAJ
author Marina Riera
Achchhe Patel
Borja Corcostegui
Stanley Chang
Barbara Corneo
Janet R. Sparrow
Esther Pomares
spellingShingle Marina Riera
Achchhe Patel
Borja Corcostegui
Stanley Chang
Barbara Corneo
Janet R. Sparrow
Esther Pomares
Generation of an induced pluripotent stem cell line (FRIMOi002-A) from a retinitis pigmentosa patient carrying compound heterozygous mutations in USH2A gene
Stem Cell Research
author_facet Marina Riera
Achchhe Patel
Borja Corcostegui
Stanley Chang
Barbara Corneo
Janet R. Sparrow
Esther Pomares
author_sort Marina Riera
title Generation of an induced pluripotent stem cell line (FRIMOi002-A) from a retinitis pigmentosa patient carrying compound heterozygous mutations in USH2A gene
title_short Generation of an induced pluripotent stem cell line (FRIMOi002-A) from a retinitis pigmentosa patient carrying compound heterozygous mutations in USH2A gene
title_full Generation of an induced pluripotent stem cell line (FRIMOi002-A) from a retinitis pigmentosa patient carrying compound heterozygous mutations in USH2A gene
title_fullStr Generation of an induced pluripotent stem cell line (FRIMOi002-A) from a retinitis pigmentosa patient carrying compound heterozygous mutations in USH2A gene
title_full_unstemmed Generation of an induced pluripotent stem cell line (FRIMOi002-A) from a retinitis pigmentosa patient carrying compound heterozygous mutations in USH2A gene
title_sort generation of an induced pluripotent stem cell line (frimoi002-a) from a retinitis pigmentosa patient carrying compound heterozygous mutations in ush2a gene
publisher Elsevier
series Stem Cell Research
issn 1873-5061
publishDate 2019-03-01
description A human induced pluripotent stem cell (iPSC) line was generated from a female patient affected by autosomal recessive retinitis pigmentosa with two mutations in the USH2A gene: c.2209C > T (p.Arg737Ter) and c.8693A > C (p.Tyr2898Ser). Skin fibroblasts were infected with Sendai virus containing the Yamanaka factors and the resulting cells were fully characterized to confirm successful reprogramming. The iPSC line expressed several pluripotency markers, could generate the three germ layers, had a normal karyotype, carried the two USH2A mutations and was free of Sendai virus. This cell line will serve as a model to unravel the pathogenic mechanisms underlying USH2A-associated retinal degeneration.
url http://www.sciencedirect.com/science/article/pii/S1873506119300145
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