Stem Cell Research (Apr 2019)
Generation of two induced pluripotent stem cell lines from a patient with compound heterozygous mutations in the USH2A gene
- Samuel McLenachan,
- Elaine Y.M. Wong,
- Xiao Zhang,
- Fiona Leith,
- Sang Yoon Moon,
- Dan Zhang,
- Shang-Chih Chen,
- Jennifer A. Thompson,
- Terri McLaren,
- Tina Lamey,
- John N. De Roach,
- Marcus D. Atlas,
- Rodney J. Dilley,
- Fred K. Chen
Affiliations
- Samuel McLenachan
- Centre for Ophthalmology and Visual Sciences, The University of Western Australia, Nedlands, Western Australia, Australia; Lions Eye Institute Australia, Nedlands, Western Australia, Australia
- 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; Centre for Neurological & Neuromuscular Diseases, The University of Western Australia, Crawley, Western Australia, Australia
- Xiao Zhang
- Centre for Ophthalmology and Visual Sciences, The University of Western Australia, Nedlands, Western Australia, Australia; Lions Eye Institute Australia, Nedlands, Western Australia, Australia
- Fiona Leith
- Ear Science Institute Australia, Nedlands, Western Australia, Australia
- Sang Yoon Moon
- Centre for Ophthalmology and Visual Sciences, The University of Western Australia, Nedlands, Western Australia, Australia
- Dan Zhang
- Lions Eye Institute Australia, Nedlands, Western Australia, Australia
- Shang-Chih Chen
- Lions Eye Institute Australia, 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
- 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
- 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
- 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
- Marcus D. Atlas
- Ear Science Institute Australia, Nedlands, Western Australia, Australia; Ear Sciences Centre, The University of Western Australia, Nedlands, Western Australia, Australia
- Rodney J. Dilley
- Ear Science Institute Australia, Nedlands, Western Australia, Australia; Centre for Cell Therapy and Regenerative Medicine, The University of Western Australia, Australia; Ear Sciences Centre, The University of Western Australia, Nedlands, Western Australia, Australia
- Fred K. Chen
- Centre for Ophthalmology and Visual Sciences, The University of Western Australia, Nedlands, Western Australia, Australia; Lions Eye Institute Australia, Nedlands, Western Australia, Australia; Department of Ophthalmology, Royal Perth Hospital, Perth, Western Australia, Australia; Corresponding author at: Centre for Ophthalmology and Visual Sciences, The University of Western Australia, Nedlands, Western Australia, Australia.
- Journal volume & issue
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Vol. 36
Abstract
The human iPSC lines LEIi010-A and LEIi010-B were generated from the dermal fibroblasts of a patient with Usher syndrome using episomal plasmids containing OCT4, SOX2, KLF4, L-MYC, LIN28, mir302/367 microRNA and shRNA for p53. These iPSC lines carry compound heterozygous mutations (c.949C > A and c.1256G > T) in USH2A. LEIi010-A and LEIi010-B expressed pluripotent stem cell markers, had a normal karyotype and could be differentiated into endoderm, mesoderm and ectodermal lineages.
