Generation of an induced pluripotent stem cell line from a patient with retinitis pigmentosa caused by RP1 mutation.

Zhang, Xiao; Moon, Sang Yoon; Zhang, Dan; Chen, Shang-Chih; Lamey, Tina; Thompson, Jennifer A; McLaren, Terri; De Roach, John N; McLenachan, Samuel; Chen, Fred K

Zhang, Xiao; Moon, Sang Yoon; Zhang, Dan; Chen, Shang-Chih; Lamey, Tina; Thompson, Jennifer A; McLaren, Terri; De Roach, John N; McLenachan, Samuel; Chen, Fred K.

Afiliação

Zhang X; Centre for Ophthalmology and Visual Sciences, The University of Western Australia, Nedlands, Western Australia, Australia; Lions Eye Institute Australia, Nedlands, Western Australia, Australia.
Moon SY; Centre for Ophthalmology and Visual Sciences, The University of Western Australia, Nedlands, Western Australia, Australia; Lions Eye Institute Australia, Nedlands, Western Australia, Australia.
Zhang D; Lions Eye Institute Australia, Nedlands, Western Australia, Australia.
Chen SC; Lions Eye Institute Australia, Nedlands, Western Australia, Australia.
Lamey T; Centre for Ophthalmology and Visual Sciences, The University of Western Australia, Nedlands, Western Australia, Australia; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, Western Australia, Australia.
Thompson JA; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, Western Australia, Australia.
McLaren T; Centre for Ophthalmology and Visual Sciences, The University of Western Australia, Nedlands, Western Australia, Australia; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, Western Australia, Australia.
De Roach JN; Centre for Ophthalmology and Visual Sciences, The University of Western Australia, Nedlands, Western Australia, Australia; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, Western Australia, Australia.
McLenachan S; Centre for Ophthalmology and Visual Sciences, The University of Western Australia, Nedlands, Western Australia, Australia; Lions Eye Institute Australia, Nedlands, Western Australia, Australia. Electronic address: smclenachan@lei.org.au.
Chen FK; Centre for Ophthalmology and Visual Sciences, The University of Western Australia, Nedlands, Western Australia, Australia; Lions Eye Institute Australia, Nedlands, Western Australia, Australia; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics,

Stem Cell Res ; 37: 101452, 2019 05.

Article em En | MEDLINE | ID: mdl-31059986

ABSTRACT

ABSTRACT

We report the generation of the iPSC line LEIi005-B from a patient with retinitis pigmentosa caused by a dominant nonsense mutation in the RP1 gene (c.2098G>T p.E700X). Reprogramming of dermal fibroblasts was performed using episomal plasmids containing OCT4, SOX2, KLF4, L-MYC, LIN28, mir302/367 microRNA and shRNA for p53 to establish the clonal iPSC line LEIi005-B. LEIi005-B expressed pluripotent stem cell markers, had a normal karyotype and differentiated into endoderm, mesoderm and ectoderm.

Assuntos

Diferenciação Celular; Reprogramação Celular; Fibroblastos/patologia; Células-Tronco Pluripotentes Induzidas/patologia; Proteínas Associadas aos Microtúbulos/genética; Mutação; Retinose Pigmentar/genética; Idoso; Células Cultivadas; Feminino; Fibroblastos/metabolismo; Humanos; Células-Tronco Pluripotentes Induzidas/metabolismo; Fator 4 Semelhante a Kruppel; Fenótipo; Retinose Pigmentar/patologia

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Diferenciação Celular / Retinose Pigmentar / Reprogramação Celular / Células-Tronco Pluripotentes Induzidas / Fibroblastos / Proteínas Associadas aos Microtúbulos / Mutação Limite: Aged / Female / Humans Idioma: En Revista: Stem Cell Res Ano de publicação: 2019 Tipo de documento: Article

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