Generation of two induced pluripotent stem cell lines from a retinitis pigmentosa patient with compound heterozygous mutations in CRB1

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

Stem Cell Research (Jul 2021)

Generation of two induced pluripotent stem cell lines from a retinitis pigmentosa patient with compound heterozygous mutations in CRB1

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

Affiliations

Sang Yoon Moon: 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 M. 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 L. McLaren: 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
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
Samuel McLenachan: Centre for Ophthalmology and Visual Science, The University of Western Australia, Perth, Western Australia, Australia; Lions Eye Institute, Nedlands, Western Australia, Australia; Corresponding author at: Lions Eye Institute, 2 Verdun Street, Nedlands WA 6009 AUSTRALIA.

Journal volume & issue: Vol. 54
p. 102403

Abstract

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Two human iPSC lines were generated from dermal fibroblasts derived from a patient with retinitis pigmentosa caused by CRB1 mutation using episomal plasmids containing OCT4, SOX2, LIN28, KLF4, L-MYC and mp53DD. These clonal iPSC lines carry compound heterozygous mutations in CRB1 (c.2555 T > C and c.3014A > T). Both lines expressed pluripotency markers, displayed a normal karyotype and demonstrated the ability to differentiate into the three primary germ layers, 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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