Establishment of an induced pluripotent stem cell line from a retinitis pigmentosa patient with compound heterozygous CRB1 mutation

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

doi:10.1016/j.scr.2018.08.001

Establishment of an induced pluripotent stem cell line from a retinitis pigmentosa patient with compound heterozygous CRB1 mutation

Stem Cell Res. 2018 Aug:31:147-151. doi: 10.1016/j.scr.2018.08.001. Epub 2018 Aug 2.

Authors

Xiao Zhang¹, Dan Zhang², Shang-Chih Chen², Tina Lamey³, Jennifer A Thompson⁴, Terri McLaren⁴, John N De Roach³, Fred K Chen⁵, Samuel McLenachan¹

Affiliations

¹ Centre for Ophthalmology and Visual Science, The University of Western Australia, Perth, 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, Perth, 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 Science, The University of Western Australia, Perth, 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, Perth, Western Australia, Australia; Department of Ophthalmology, Royal Perth Hospital, Perth, Western Australia, Australia. Electronic address: fredchen@lei.org.au.

PMID: 30092450
DOI: 10.1016/j.scr.2018.08.001

Abstract

The human iPSC line LEIi006-A was generated from dermal fibroblasts from a patient with retinitis pigmentosa using episomal plasmids containing OCT4, SOX2, KLF4, L-MYC, LIN28, mir302/367 microRNA and shRNA for p53. The iPSC cells carry compound heterozygous mutations (c.1892A > G and c.2548G > A) in the CRB1 gene. LEIi006-A expressed pluripotent stem cell markers, had a normal karyotype and could be differentiated into endoderm, mesoderm and ectodermal lineages, as well as retinal organoids.

Publication types

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

MeSH terms

Cell Differentiation
Cell Line
Eye Proteins / metabolism*
Female
Humans
Induced Pluripotent Stem Cells / metabolism*
Kruppel-Like Factor 4
Membrane Proteins / metabolism*
Middle Aged
Mutation
Nerve Tissue Proteins / metabolism*
Retinitis Pigmentosa / genetics*

Substances

CRB1 protein, human
Eye Proteins
KLF4 protein, human
Kruppel-Like Factor 4
Membrane Proteins
Nerve Tissue Proteins