Stem Cell Research (Jan 2021)
Generation of three induced pluripotent stem cell lines from a patient with Usher syndrome caused by biallelic c.949C > A and c.1256G > T mutations in the USH2A gene
- Khine Zaw,
- Elaine Y.M. Wong,
- Xiao Zhang,
- Dan Zhang,
- Shang-Chih Chen,
- Jennifer A. Thompson,
- Tina Lamey,
- Terri McLaren,
- John N. De Roach,
- Steve D. Wilton,
- Sue Fletcher,
- Chalermchai Mitrpant,
- Marcus D. Atlas,
- Fred K. Chen,
- Samuel McLenachan
Affiliations
- Khine Zaw
- Ocular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, Western Australia, Australia; Centre for Molecular Medicine and Innovative Therapeutics, Murdoch University, Murdoch, Western Australia, Australia; Department of Biochemistry, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand
- Elaine Y.M. Wong
- Ear Science Institute Australia, Nedlands, Western Australia, Australia; School of Pharmacy and Biomedical Sciences, Faculty of Health Sciences, Curtin University, Bentley, Western Australia, Australia; Ear Sciences Centre, The University of Western Australia, Nedlands, Western Australia, Australia
- Xiao Zhang
- Ocular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, Western Australia, Australia; Centre for Ophthalmology and Visual Sciences, The University of Western Australia, Nedlands, Western Australia, Australia
- Dan Zhang
- Ocular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, Western Australia, Australia
- Shang-Chih Chen
- Ocular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, Western Australia, Australia
- Jennifer A. Thompson
- Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, Western Australia, Australia
- Tina Lamey
- 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
- Terri McLaren
- 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
- John N. De Roach
- 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
- Steve D. Wilton
- Centre for Molecular Medicine and Innovative Therapeutics, Murdoch University, Murdoch, Western Australia, Australia; Perron Institute for Neurological and Translational Science and Centre for Neuromuscular and Neurological Disorders, The University of Western Australia, Perth, Western Australia, Australia
- Sue Fletcher
- Centre for Molecular Medicine and Innovative Therapeutics, Murdoch University, Murdoch, Western Australia, Australia; Perron Institute for Neurological and Translational Science and Centre for Neuromuscular and Neurological Disorders, The University of Western Australia, Perth, Western Australia, Australia
- Chalermchai Mitrpant
- Department of Biochemistry, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand; Perron Institute for Neurological and Translational Science and Centre for Neuromuscular and Neurological Disorders, The University of Western Australia, Perth, Western Australia, Australia
- Marcus D. Atlas
- Ear Science Institute Australia, Nedlands, Western Australia, Australia; Ear Sciences Centre, The University of Western Australia, Nedlands, Western Australia, Australia
- Fred K. Chen
- Ocular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, Western Australia, Australia; 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; Department of Ophthalmology, Royal Perth Hospital, Perth, Western Australia, Australia; Department of Ophthalmology, Perth Children’s Hospital, Nedlands, Western Australia, Australia; Corresponding authors at: Lions Eye Institute, Nedlands, Western Australia, Australia.
- Samuel McLenachan
- Ocular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, Western Australia, Australia; Centre for Ophthalmology and Visual Sciences, The University of Western Australia, Nedlands, Western Australia, Australia; Corresponding authors at: Lions Eye Institute, Nedlands, Western Australia, Australia.
- Journal volume & issue
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Vol. 50
p. 102129
Abstract
Mutations in the USH2A gene are the most common cause of Usher syndrome and autosomal recessive non-syndromic retinitis pigmentosa. Here, we describe the generation of three induced pluripotent stem cell lines from dermal fibroblasts derived from a patient carrying biallelic c.949C > A and c.1256G > T variants in the USH2A gene, using episomal reprogramming plasmids expressing OCT4, SOX2, KLF4, MYCL, LIN28, mir302/367 and shRNA targeting TP53. All three lines expressed pluripotency markers, displayed unaltered karyotypes as well as trilineage differentiation potential, and were negative for reprogramming episomes and mycoplasma.
