Generation of two induced pluripotent stem cell lines from an Usher syndrome type 1B patient with the homozygous c.496del MYO7A variant

Elaine Y.M. Wong; Xin E. Khoh; Shang-Chih Chen; Joey Lye; Fiona K. Leith; Dan Zhang; Tina M. Lamey; Jennifer A. Thompson; Terri L. McLaren; Marcus D. Atlas; Fred K. Chen; Samuel McLenachan

Stem Cell Research (Sep 2024)

Generation of two induced pluripotent stem cell lines from an Usher syndrome type 1B patient with the homozygous c.496del MYO7A variant

Elaine Y.M. Wong,
Xin E. Khoh,
Shang-Chih Chen,
Joey Lye,
Fiona K. Leith,
Dan Zhang,
Tina M. Lamey,
Jennifer A. Thompson,
Terri L. McLaren,
Marcus D. Atlas,
Fred K. Chen,
Samuel McLenachan

Affiliations

Elaine Y.M. Wong: Ear Science Institute Australia, Nedlands, Western Australia, Australia; Curtin Medical School, Faculty of Health Sciences, Curtin University, Bentley, Western Australia, Australia; Ear Sciences Centre, The University of Western Australia, Nedlands, Western Australia, Australia
Xin E. Khoh: Ear Science Institute Australia, Nedlands, Western Australia, Australia; School of Human Sciences, The University of Western Australia, Nedlands, Western Australia, Australia
Shang-Chih Chen: Ocular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, Western Australia, Australia
Joey Lye: Ear Science Institute Australia, Nedlands, Western Australia, Australia; Ear Sciences Centre, The University of Western Australia, Nedlands, Western Australia, Australia
Fiona K. Leith: Ear Science Institute Australia, Nedlands, Western Australia, Australia; Ear Sciences Centre, The University of Western Australia, Nedlands, Western Australia, Australia
Dan Zhang: 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
Marcus D. Atlas: Ear Science Institute Australia, Nedlands, Western Australia, Australia; Ear Sciences Centre, The University of Western Australia, Nedlands, 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. 79
p. 103492

Abstract

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Usher syndrome (USH) is the most common cause of inherited deaf-blindness. Here, we produced the LEIi020-A and LEIi020-B induced pluripotent stem cell (iPSC) lines from dermal fibroblasts derived from a patient with USH1B caused by inheritance of homozygous c.496del variants in MYO7A using episomal plasmids encoding OCT4, SOX2, KLF4, L-MYC, LIN28, mir302/367 microRNA and shRNA for TP53. Both iPSC lines expressed pluripotency markers, demonstrated trilineage differentiation potential and displayed a 46,XY karyotype. These cell lines represent a valuable resource for the production of retinal and otic tissues to support research into the pathogenesis and treatment of USH1B.

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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