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

Samuel McLenachan; Dan Zhang; Xiao Zhang; Shang-Chih Chen; Tina Lamey; Jennifer A Thompson; Terri McLaren; John N De Roach; Sue Fletcher; Fred K Chen

doi:10.1016/j.scr.2018.11.018

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

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

Authors

Affiliations

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.

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

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Adult
Base Sequence
Cell Culture Techniques / methods*
Cell Line
Child
Child, Preschool
Eye Proteins / genetics*
Female
Genes, Dominant*
Heterozygote
Humans
Induced Pluripotent Stem Cells / pathology*
Kruppel-Like Factor 4
Male
Middle Aged
Mutation / genetics*
Penetrance*
Young Adult

Substances

Eye Proteins
KLF4 protein, human
Kruppel-Like Factor 4
PRPF31 protein, human