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

doi:10.1016/j.scr.2020.102129

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

Stem Cell Res. 2020 Dec 16:50:102129. doi: 10.1016/j.scr.2020.102129. Online ahead of print.

Authors

Khine Zaw¹, Elaine Y M Wong², Xiao Zhang³, Dan Zhang⁴, Shang-Chih Chen⁴, Jennifer A Thompson⁵, Tina Lamey⁶, Terri McLaren⁶, John N De Roach⁶, Steve D Wilton⁷, Sue Fletcher⁷, Chalermchai Mitrpant⁸, Marcus D Atlas⁹, Fred K Chen¹⁰, Samuel McLenachan¹¹

Affiliations

¹ 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.
² 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.
³ 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.
⁴ Ocular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, Western Australia, Australia.
⁵ Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, Western Australia, Australia.
⁶ 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.
⁷ 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.
⁸ 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.
⁹ Ear Science Institute Australia, Nedlands, Western Australia, Australia; Ear Sciences Centre, The University of Western Australia, Nedlands, Western Australia, Australia.
¹⁰ 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. Electronic address: fredchen@lei.org.au.
¹¹ 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. Electronic address: smclenachan@lei.org.au.

PMID: 33360097
DOI: 10.1016/j.scr.2020.102129

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.