Generation of two induced pluripotent stem cell lines from a retinitis pigmentosa patient with compound heterozygous mutations in CRB1.

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

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

Afiliación

Moon SY; Centre for Ophthalmology and Visual Science, The University of Western Australia, Perth, Western Australia, Australia; Lions Eye Institute, Nedlands, Western Australia, Australia.
Zhang D; Lions Eye Institute, Nedlands, Western Australia, Australia.
Chen SC; Lions Eye Institute, Nedlands, Western Australia, Australia.
Lamey TM; Centre for Ophthalmology and Visual Science, The University of Western Australia, Perth, 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 TL; Centre for Ophthalmology and Visual Science, The University of Western Australia, Perth, 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 Science, The University of Western Australia, Perth, 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.
Chen FK; Centre for Ophthalmology and Visual Science, The University of Western Australia, Perth, Western Australia, Australia; Lions Eye Institute, Nedlands, Western Australia, Australia; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Ga
McLenachan S; Centre for Ophthalmology and Visual Science, The University of Western Australia, Perth, Western Australia, Australia; Lions Eye Institute, Nedlands, Western Australia, Australia.

Stem Cell Res ; 54: 102403, 2021 07.

Article en En | MEDLINE | ID: mdl-34034222

RESUMEN

Two human iPSC lines were generated from dermal fibroblasts derived from a patient with retinitis pigmentosa caused by CRB1 mutation using episomal plasmids containing OCT4, SOX2, LIN28, KLF4, L-MYC and mp53DD. These clonal iPSC lines carry compound heterozygous mutations in CRB1 (c.2555 T > C and c.3014A > T). Both lines expressed pluripotency markers, displayed a normal karyotype and demonstrated the ability to differentiate into the three primary germ layers, as well as retinal organoids.

Asunto(s)

Células Madre Pluripotentes Inducidas; Retinitis Pigmentosa; Diferenciación Celular; Línea Celular; Proteínas del Ojo/genética; Fibroblastos; Humanos; Factor 4 Similar a Kruppel; Proteínas de la Membrana; Mutación; Proteínas del Tejido Nervioso; Retinitis Pigmentosa/genética

Texto completo

Añadir a Mi BVS

Imprimir

XML

PubMed Links

Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Retinitis Pigmentosa / Células Madre Pluripotentes Inducidas Límite: Humans Idioma: En Revista: Stem Cell Res Año: 2021 Tipo del documento: Article País de afiliación: Australia

Texto completo

Añadir a Mi BVS

Imprimir

XML

PubMed Links

Buscar en Google