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 .

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
Murdoch Affiliation:	Centre for Comparative Genomics
Publisher:	Elsevier B.V.
Copyright:	© 2018 The Authors.
URI:	http://researchrepository.murdoch.edu.au/id/eprint/42878

Item Control Page

Downloads