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.ORCID: 0000-0002-4121-1985, 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 . Article 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.

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

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