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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

Zaw, K., Wong, E.Y.M., Zhang, X., Zhang, D., Chen, S-C, Thompson, J.A., Lamey, T., McLaren, T., De Roach, J.N., Wilton, S.D., Fletcher, S., Mitrpant, C., Atlas, M.D., Chen, F.K. and McLenachan, S. (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. Stem Cell Research, 50 . Art. 102129.

Free to read: 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.

Item Type: Journal Article
Murdoch Affiliation(s): Centre for Molecular Medicine and Innovative Therapeutics (CMMIT)
Publisher: Elsevier B.V.
Copyright: © 2020 The Authors.
United Nations SDGs: Goal 3: Good Health and Well-Being
URI: http://researchrepository.murdoch.edu.au/id/eprint/59202
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