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

doi:10.1016/j.scr.2024.103492

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

Research output: Contribution to journal › Article › peer-review

Abstract

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.

Original language	English
Article number	103492
Number of pages	4
Journal	Stem Cell Research
Volume	79
Early online date	15 Jul 2024
DOIs	https://doi.org/10.1016/j.scr.2024.103492
Publication status	Published - Sept 2024

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10.1016/j.scr.2024.103492Licence: CC BY-NC

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Wong, E. Y. M., Khoh, X. E., Chen, S. C., Lye, J., Leith, F. K., Zhang, D., Lamey, T. M., Thompson, J. A., McLaren, T. L., Atlas, M. D., Chen, F. K., & McLenachan, S. (2024). Generation of two induced pluripotent stem cell lines from an Usher syndrome type 1B patient with the homozygous c.496del MYO7A variant. Stem Cell Research, 79, Article 103492. https://doi.org/10.1016/j.scr.2024.103492

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

abstract = "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.",

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

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year = "2024",

month = sep,

doi = "10.1016/j.scr.2024.103492",

language = "English",

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journal = "Stem Cell Research",

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AU - Wong, Elaine Y.M.

AU - Khoh, Xin E.

AU - Chen, Shang Chih

AU - Lye, Joey

AU - Leith, Fiona K.

AU - Zhang, Dan

AU - Lamey, Tina M.

AU - Thompson, Jennifer A.

AU - McLaren, Terri L.

AU - Atlas, Marcus D.

AU - Chen, Fred K.

AU - McLenachan, Samuel

PY - 2024/9

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AB - 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.

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DO - 10.1016/j.scr.2024.103492

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

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Accelerating the identification and treatment of splice-altering mutations underlying inherited retinal diseases

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

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Accelerating the identification and treatment of splice-altering mutations underlying inherited retinal diseases

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