Publication: 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
Issued Date
2021-01-01
Resource Type
ISSN
18767753
18735061
18735061
Other identifier(s)
2-s2.0-85098226078
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Mahidol University
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SCOPUS
Bibliographic Citation
Stem Cell Research. Vol.50, (2021)
Suggested Citation
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 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 Research. Vol.50, (2021). doi:10.1016/j.scr.2020.102129 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/76420
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Title
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
Other Contributor(s)
Perth Children's Hospital
University of Western Australia, Centre for Ophthalmology and Visual Science
The University of Western Australia
Curtin University
Royal Perth Hospital
Sir Charles Gairdner Hospital
Murdoch University
Lions Eye Institute, Perth
Faculty of Medicine Siriraj Hospital, Mahidol University
Ear Science Institute Australia
University of Western Australia, Centre for Ophthalmology and Visual Science
The University of Western Australia
Curtin University
Royal Perth Hospital
Sir Charles Gairdner Hospital
Murdoch University
Lions Eye Institute, Perth
Faculty of Medicine Siriraj Hospital, Mahidol University
Ear Science Institute Australia
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.