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Stem Cell Res. 2019 Jan;34:101357. doi: 10.1016/j.scr.2018.11.018. Epub 2018 Dec 10.

Generation of two induced pluripotent stem cell lines from a patient with dominant PRPF31 mutation and a related non-penetrant carrier.

Author information

1
Centre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, Western Australia, Australia; Lions Eye Institute, Nedlands, Western Australia, Australia.
2
Lions Eye Institute, Nedlands, Western Australia, Australia.
3
Centre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, Western Australia, Australia.
4
Centre for Ophthalmology and Visual Science, 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, Nedlands, Western Australia, Australia.
5
Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia.
6
Centre for Comparative Genomics, Murdoch University, Western Australia, Australia.
7
Centre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, Western Australia, Australia; Lions Eye Institute, Nedlands, Western Australia, Australia; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia; Department of Ophthalmology, Royal Perth Hospital, Perth, Western Australia, Australia. Electronic address: fredchen@lei.org.au.

Abstract

We report the generation of the human iPSC line LEIi008-A from a patient with retinitis pigmentosa-11 caused by a dominant nonsense mutation in the PRPF31 gene (NM_015629.3:c.1205C > A p.(Ser402Ter)). A second line, LEIi009-A, was generated from a related non-penetrant carrier of the same mutation with no retinal disease. Reprogramming of patient dermal fibroblasts using episomal plasmids containing OCT4, SOX2, KLF4, L-MYC, LIN28, shRNA for p53 and mir302/367 microRNA generated cell lines displaying pluripotent stem cell marker expression, a normal karyotype and the capability to differentiate into the three germ layer lineages. Resource table.

PMID:
30611018
DOI:
10.1016/j.scr.2018.11.018
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