Establishment of an induced pluripotent stem cell line LEIi019-A from an early-onset retinal dystrophy patient with the autosomal dominant OTX2 c.259G>A variant

Dan Zhang; Luke Jennings; Shang-Chih Chen; Khine Zaw; Tina M. Lamey; Jennifer A. Thompson; Terri L. McLaren; Fred K. Chen; Samuel McLenachan

Stem Cell Research (Aug 2024)

Establishment of an induced pluripotent stem cell line LEIi019-A from an early-onset retinal dystrophy patient with the autosomal dominant OTX2 c.259G>A variant

Dan Zhang,
Luke Jennings,
Shang-Chih Chen,
Khine Zaw,
Tina M. Lamey,
Jennifer A. Thompson,
Terri L. McLaren,
Fred K. Chen,
Samuel McLenachan

Affiliations

Dan Zhang: Ocular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, Western Australia, Australia
Luke Jennings: Ocular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, Western Australia, Australia
Shang-Chih Chen: Ocular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, Western Australia, Australia
Khine Zaw: Ocular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, Western Australia, Australia
Tina M. Lamey: 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 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
Fred K. Chen: Ocular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, Western Australia, Australia; 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; Department of Ophthalmology, Royal Perth Hospital, Perth, Western Australia, Australia; Department of Ophthalmology, Perth Children’s Hospital, Nedlands, Western Australia, Australia; Corresponding authors.
Samuel McLenachan: Ocular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, Western Australia, Australia; Centre for Ophthalmology and Visual Sciences, The University of Western Australia, Nedlands, Western Australia, Australia; Corresponding authors.

Journal volume & issue: Vol. 78
p. 103461

Abstract

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The human induced pluripotent stem cell (iPSC) line LEIi019-A was generated from a patient with early-onset pattern dystrophy caused by a heterozygous mutation NM_001270525.1:c.259G>A (p.Glu87Lys) in OTX2. Patient-derived dermal fibroblasts were reprogrammed using episomal plasmids containing reprogramming factors OCT4, SOX2, KLF4, MYCL, LIN28, TP53 shRNA and miR-302/367. The iPSC line expressed pluripotency markers, displayed a normal 46,XY karyotype and demonstrated the ability to differentiate into the three primary germ layers, retinal organoids and retinal pigment epithelial cells.

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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