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

Stem Cell Research (Aug 2018)

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

Affiliations

Xiao Zhang: Centre for Ophthalmology and Visual Science, The University of Western Australia, Perth, Western Australia, Australia; Lions Eye Institute, Nedlands, Western Australia, Australia
Dan Zhang: Lions Eye Institute, Nedlands, Western Australia, Australia
Shang-Chih Chen: Lions Eye Institute, Nedlands, Western Australia, Australia
Tina Lamey: 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
Jennifer A. Thompson: Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, Western Australia, Australia
Terri McLaren: Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, Western Australia, Australia
John N. De Roach: 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
Fred K. Chen: 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; Corresponding author at: Centre for Ophthalmology and Visual Science, The University of Western Australia, Perth, Western Australia, Australia.
Samuel McLenachan: Centre for Ophthalmology and Visual Science, The University of Western Australia, Perth, Western Australia, Australia; Lions Eye Institute, Nedlands, Western Australia, Australia

Journal volume & issue: Vol. 31
pp. 147 – 151

Abstract

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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.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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