Generation of an induced pluripotent stem cell line from a patient with retinitis pigmentosa caused by RP1 mutation

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

doi:10.1016/j.scr.2019.101452

Generation of an induced pluripotent stem cell line from a patient with retinitis pigmentosa caused by RP1 mutation

Stem Cell Res. 2019 May:37:101452. doi: 10.1016/j.scr.2019.101452. Epub 2019 Apr 25.

Authors

Affiliations

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

PMID: 31059986
DOI: 10.1016/j.scr.2019.101452

Abstract

We report the generation of the iPSC line LEIi005-B from a patient with retinitis pigmentosa caused by a dominant nonsense mutation in the RP1 gene (c.2098G>T p.E700X). Reprogramming of dermal fibroblasts was performed using episomal plasmids containing OCT4, SOX2, KLF4, L-MYC, LIN28, mir302/367 microRNA and shRNA for p53 to establish the clonal iPSC line LEIi005-B. LEIi005-B expressed pluripotent stem cell markers, had a normal karyotype and differentiated into endoderm, mesoderm and ectoderm.

Publication types

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

MeSH terms

Aged
Cell Differentiation*
Cells, Cultured
Cellular Reprogramming*
Female
Fibroblasts / metabolism
Fibroblasts / pathology*
Humans
Induced Pluripotent Stem Cells / metabolism
Induced Pluripotent Stem Cells / pathology*
Kruppel-Like Factor 4
Microtubule-Associated Proteins / genetics*
Mutation*
Phenotype
Retinitis Pigmentosa / genetics*
Retinitis Pigmentosa / pathology

Substances

KLF4 protein, human
Kruppel-Like Factor 4
Microtubule-Associated Proteins
RP1 protein, human