Generation of two induced pluripotent stem cell lines from a patient with dominant PRPF31 mutation and a related non-penetrant carrier
McLenachan, S., Zhang, D., Zhang, X., Chen, S-C, Lamey, T., Thompson, J.A., McLaren, T., De Roach, J.N., Fletcher, S. and Chen, F.K. (2018) Generation of two induced pluripotent stem cell lines from a patient with dominant PRPF31 mutation and a related non-penetrant carrier. Stem Cell Research, 34 .
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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.
Item Type: | Journal Article |
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Murdoch Affiliation: | Centre for Comparative Genomics |
Publisher: | Elsevier B.V. |
Copyright: | © 2018 The Authors. |
URI: | http://researchrepository.murdoch.edu.au/id/eprint/42878 |
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