Generation of three induced pluripotent stem cell lines from an isolated inherited retinal dystrophy patient with RCBTB1 frameshifting mutations

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

Stem Cell Research (Oct 2019)

Generation of three induced pluripotent stem cell lines from an isolated inherited retinal dystrophy patient with RCBTB1 frameshifting mutations

Zhiqin Huang,
Dan Zhang,
Shang-Chih Chen,
Jennifer A. Thompson,
Terri McLaren,
Tina Lamey,
John N. De Roach,
Samuel McLenachan,
Fred K. Chen

Affiliations

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

Journal volume & issue: Vol. 40

Abstract

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Variants in RCBTB1 have been implicated in inherited retinal disease (IRD). Here, we generated induced pluripotent stem cells (iPSCs) from a 45-year-old female IRD patient harbouring compound heterozygous mutations in the RCBTB1 gene. Episomal plasmids containing OCT4, SOX2, KLF4, MYCL, LIN28, shRNA for TP53 and mir302/367 microRNA were employed to conduct the reprogramming of primary dermal fibroblasts. These iPSC lines provide a useful model for further investigations on the pathophysiological role of mutations in the RCBTB1 gene in IRD.

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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