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

K. Zaw; E.Y.M. Wong; X. Zhang; D. Zhang; S-C Chen; J.A. Thompson; T. Lamey; T. McLaren; J.N. De Roach; S.D. Wilton; S. Fletcher; C. Mitrpant; M.D. Atlas; F.K. Chen; S. McLenachan

doi:10.1016/j.scr.2020.102129

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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

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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

K. Zaw, E.Y.M. Wong, X. Zhang, D. Zhang, S-C Chen, J.A. Thompson, T. Lamey, T. McLaren, J.N. De Roach, S.D. Wilton, …

Stem Cell Research, Vol.50, Article 102129

2021

DOI: https://doi.org/10.1016/j.scr.2020.102129

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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.

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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
Authors/Creators: K. Zaw (Author/Creator) - Mahidol University
E.Y.M. Wong (Author/Creator)
X. Zhang (Author/Creator) - The University of Western Australia
D. Zhang (Author/Creator) - Lions Eye Institute
S-C Chen (Author/Creator) - Lions Eye Institute
J.A. Thompson (Author/Creator) - Sir Charles Gairdner Hospital
T. Lamey (Author/Creator) - The University of Western Australia
T. McLaren (Author/Creator) - The University of Western Australia
J.N. De Roach (Author/Creator) - The University of Western Australia
S.D. Wilton (Author/Creator) - The University of Western Australia
S. Fletcher (Author/Creator) - The University of Western Australia
C. Mitrpant (Author/Creator) - Mahidol University
M.D. Atlas (Author/Creator) - The University of Western Australia
F.K. Chen (Author/Creator) - Lions Eye Institute
S. McLenachan (Author/Creator) - The University of Western Australia
Publication Details: Stem Cell Research, Vol.50, Article 102129
Publisher: Elsevier B.V.
Identifiers: 991005540156607891
Copyright: © 2020 The Author(s)
Murdoch Affiliation: Centre for Molecular Medicine and Innovative Therapeutics
Language: English
Resource Type: Journal article

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Collaboration types: Domestic collaboration; International collaboration
Citation topics: 1 Clinical & Life Sciences; 1.36 Ophthalmology; 1.36.212 Genetic Retinopathies
Web Of Science research areas: Biotechnology & Applied Microbiology; Cell & Tissue Engineering; Cell Biology
ESI research areas: Molecular Biology & Genetics