Generation of three induced pluripotent stem cell lines from a patient with Usher syndrome caused by biallelic c.949C > A and c.1256G > T mutations in the USH2A gene

Khine Zaw; Elaine Y.M. Wong; Xiao Zhang; Dan Zhang; Shang Chih Chen; Jennifer A. Thompson; Tina Lamey; Terri McLaren; John N. De Roach; Steve D. Wilton; Sue Fletcher; Chalermchai Mitrpant; Marcus D. Atlas; Fred K. Chen; Samuel McLenachan

doi:10.1016/j.scr.2020.102129

Generation of three induced pluripotent stem cell lines from a patient with Usher syndrome caused by biallelic c.949C > A and c.1256G > T mutations in the USH2A gene

Khine Zaw, Elaine Y.M. Wong, Xiao Zhang, Dan Zhang, Shang Chih Chen, Jennifer A. Thompson, Tina Lamey, Terri McLaren, John N. De Roach, Steve D. Wilton, Sue Fletcher, Chalermchai Mitrpant, Marcus D. Atlas, Fred K. Chen, Samuel McLenachan

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

2 Citations (Scopus)

Abstract

Mutations in the USH2A gene are the most common cause of Usher syndrome and autosomal recessive non-syndromic retinitis pigmentosa. Here, we describe the generation of three induced pluripotent stem cell lines from dermal fibroblasts derived from a patient carrying biallelic c.949C > A and c.1256G > T variants in the USH2A gene, using episomal reprogramming plasmids expressing OCT4, SOX2, KLF4, MYCL, LIN28, mir302/367 and shRNA targeting TP53. All three lines expressed pluripotency markers, displayed unaltered karyotypes as well as trilineage differentiation potential, and were negative for reprogramming episomes and mycoplasma.

Original language	English
Article number	102129
Journal	Stem Cell Research
Volume	50
DOIs	https://doi.org/10.1016/j.scr.2020.102129
Publication status	Published - Jan 2021

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Zaw, K., Wong, E. Y. M., Zhang, X., Zhang, D., Chen, S. C., Thompson, J. A., Lamey, T., McLaren, T., De Roach, J. N., Wilton, S. D., Fletcher, S., Mitrpant, C., Atlas, M. D., Chen, F. K., & McLenachan, S. (2021). Generation of three induced pluripotent stem cell lines from a patient with Usher syndrome caused by biallelic c.949C > A and c.1256G > T mutations in the USH2A gene. Stem Cell Research, 50, [102129]. https://doi.org/10.1016/j.scr.2020.102129

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title = "Generation of three induced pluripotent stem cell lines from a patient with Usher syndrome caused by biallelic c.949C > A and c.1256G > T mutations in the USH2A gene",

abstract = "Mutations in the USH2A gene are the most common cause of Usher syndrome and autosomal recessive non-syndromic retinitis pigmentosa. Here, we describe the generation of three induced pluripotent stem cell lines from dermal fibroblasts derived from a patient carrying biallelic c.949C > A and c.1256G > T variants in the USH2A gene, using episomal reprogramming plasmids expressing OCT4, SOX2, KLF4, MYCL, LIN28, mir302/367 and shRNA targeting TP53. All three lines expressed pluripotency markers, displayed unaltered karyotypes as well as trilineage differentiation potential, and were negative for reprogramming episomes and mycoplasma.",

author = "Khine Zaw and Wong, {Elaine Y.M.} and Xiao Zhang and Dan Zhang and Chen, {Shang Chih} and Thompson, {Jennifer A.} and Tina Lamey and Terri McLaren and {De Roach}, {John N.} and Wilton, {Steve D.} and Sue Fletcher and Chalermchai Mitrpant and Atlas, {Marcus D.} and Chen, {Fred K.} and Samuel McLenachan",

year = "2021",

month = jan,

doi = "10.1016/j.scr.2020.102129",

language = "English",

volume = "50",

journal = "Stem Cell Research",

issn = "1873-5061",

publisher = "Pergamon",

}

Zaw, K, Wong, EYM, Zhang, X, Zhang, D, Chen, SC, Thompson, JA, Lamey, T, McLaren, T, De Roach, JN, Wilton, SD , Fletcher, S, Mitrpant, C, Atlas, MD , Chen, FK & McLenachan, S 2021, 'Generation of three induced pluripotent stem cell lines from a patient with Usher syndrome caused by biallelic c.949C > A and c.1256G > T mutations in the USH2A gene', Stem Cell Research, vol. 50, 102129. https://doi.org/10.1016/j.scr.2020.102129

TY - JOUR

T1 - Generation of three induced pluripotent stem cell lines from a patient with Usher syndrome caused by biallelic c.949C > A and c.1256G > T mutations in the USH2A gene

AU - Zaw, Khine

AU - Wong, Elaine Y.M.

AU - Zhang, Xiao

AU - Zhang, Dan

AU - Chen, Shang Chih

AU - Thompson, Jennifer A.

AU - Lamey, Tina

AU - McLaren, Terri

AU - De Roach, John N.

AU - Wilton, Steve D.

AU - Fletcher, Sue

AU - Mitrpant, Chalermchai

AU - Atlas, Marcus D.

AU - Chen, Fred K.

AU - McLenachan, Samuel

PY - 2021/1

Y1 - 2021/1

N2 - Mutations in the USH2A gene are the most common cause of Usher syndrome and autosomal recessive non-syndromic retinitis pigmentosa. Here, we describe the generation of three induced pluripotent stem cell lines from dermal fibroblasts derived from a patient carrying biallelic c.949C > A and c.1256G > T variants in the USH2A gene, using episomal reprogramming plasmids expressing OCT4, SOX2, KLF4, MYCL, LIN28, mir302/367 and shRNA targeting TP53. All three lines expressed pluripotency markers, displayed unaltered karyotypes as well as trilineage differentiation potential, and were negative for reprogramming episomes and mycoplasma.

AB - Mutations in the USH2A gene are the most common cause of Usher syndrome and autosomal recessive non-syndromic retinitis pigmentosa. Here, we describe the generation of three induced pluripotent stem cell lines from dermal fibroblasts derived from a patient carrying biallelic c.949C > A and c.1256G > T variants in the USH2A gene, using episomal reprogramming plasmids expressing OCT4, SOX2, KLF4, MYCL, LIN28, mir302/367 and shRNA targeting TP53. All three lines expressed pluripotency markers, displayed unaltered karyotypes as well as trilineage differentiation potential, and were negative for reprogramming episomes and mycoplasma.

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DO - 10.1016/j.scr.2020.102129

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Generation of three induced pluripotent stem cell lines from a patient with Usher syndrome caused by biallelic c.949C > A and c.1256G > T mutations in the USH2A gene

Abstract

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

MRFF - Developing Personalised Treatment for Retinal Degeneration

From discovery to therapy in genetic eye diseases

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Generation of three induced pluripotent stem cell lines from a patient with Usher syndrome caused by biallelic c.949C > A and c.1256G > T mutations in the USH2A gene

Abstract

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Other files and links

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Projects

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

MRFF - Developing Personalised Treatment for Retinal Degeneration

From discovery to therapy in genetic eye diseases

Cite this