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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.
Affiliation
  • 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 in En | MEDLINE | ID: mdl-34034222
ABSTRACT
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.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Retinitis Pigmentosa / Induced Pluripotent Stem Cells Limits: Humans Language: En Journal: Stem Cell Res Year: 2021 Document type: Article Affiliation country: Australia
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Retinitis Pigmentosa / Induced Pluripotent Stem Cells Limits: Humans Language: En Journal: Stem Cell Res Year: 2021 Document type: Article Affiliation country: Australia