Generation of an induced pluripotent stem cell line from a patient with retinitis pigmentosa caused by RP1 mutation

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

doi:10.1016/j.scr.2019.101452

Generation of an induced pluripotent stem cell line from a patient with retinitis pigmentosa caused by RP1 mutation

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

Centre for Ophthalmology and Visual Science (affiliated with the Lions Eye Institute)

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

Abstract

We report the generation of the iPSC line LEIi005-B from a patient with retinitis pigmentosa caused by a dominant nonsense mutation in the RP1 gene (c.2098G>T p.E700X). Reprogramming of dermal fibroblasts was performed using episomal plasmids containing OCT4, SOX2, KLF4, L-MYC, LIN28, mir302/367 microRNA and shRNA for p53 to establish the clonal iPSC line LEIi005-B. LEIi005-B expressed pluripotent stem cell markers, had a normal karyotype and differentiated into endoderm, mesoderm and ectoderm.

Original language	English
Article number	101452
Journal	Stem Cell Research
Volume	37
DOIs	https://doi.org/10.1016/j.scr.2019.101452
Publication status	Published - 1 May 2019

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10.1016/j.scr.2019.101452Licence: CC BY

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@article{8dd9894d80eb4d4eb5cef9c2dd8e72ef,

title = "Generation of an induced pluripotent stem cell line from a patient with retinitis pigmentosa caused by RP1 mutation",

abstract = "We report the generation of the iPSC line LEIi005-B from a patient with retinitis pigmentosa caused by a dominant nonsense mutation in the RP1 gene (c.2098G>T p.E700X). Reprogramming of dermal fibroblasts was performed using episomal plasmids containing OCT4, SOX2, KLF4, L-MYC, LIN28, mir302/367 microRNA and shRNA for p53 to establish the clonal iPSC line LEIi005-B. LEIi005-B expressed pluripotent stem cell markers, had a normal karyotype and differentiated into endoderm, mesoderm and ectoderm.",

author = "Xiao Zhang and Moon, {Sang Yoon} and Dan Zhang and Chen, {Shang Chih} and Tina Lamey and Thompson, {Jennifer A.} and Terri McLaren and {De Roach}, {John N.} and Samuel McLenachan and Chen, {Fred K.}",

year = "2019",

month = may,

day = "1",

doi = "10.1016/j.scr.2019.101452",

language = "English",

volume = "37",

journal = "Stem Cell Research",

issn = "1873-5061",

publisher = "Pergamon",

}

Generation of an induced pluripotent stem cell line from a patient with retinitis pigmentosa caused by RP1 mutation. / Zhang, Xiao; Moon, Sang Yoon; Zhang, Dan; Chen, Shang Chih; Lamey, Tina; Thompson, Jennifer A.; McLaren, Terri; De Roach, John N.; McLenachan, Samuel ; Chen, Fred K.

In: Stem Cell Research, Vol. 37, 101452, 01.05.2019.

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

TY - JOUR

T1 - Generation of an induced pluripotent stem cell line from a patient with retinitis pigmentosa caused by RP1 mutation

AU - Zhang, Xiao

AU - Moon, Sang Yoon

AU - Zhang, Dan

AU - Chen, Shang Chih

AU - Lamey, Tina

AU - Thompson, Jennifer A.

AU - McLaren, Terri

AU - De Roach, John N.

AU - McLenachan, Samuel

AU - Chen, Fred K.

PY - 2019/5/1

Y1 - 2019/5/1

N2 - We report the generation of the iPSC line LEIi005-B from a patient with retinitis pigmentosa caused by a dominant nonsense mutation in the RP1 gene (c.2098G>T p.E700X). Reprogramming of dermal fibroblasts was performed using episomal plasmids containing OCT4, SOX2, KLF4, L-MYC, LIN28, mir302/367 microRNA and shRNA for p53 to establish the clonal iPSC line LEIi005-B. LEIi005-B expressed pluripotent stem cell markers, had a normal karyotype and differentiated into endoderm, mesoderm and ectoderm.

AB - We report the generation of the iPSC line LEIi005-B from a patient with retinitis pigmentosa caused by a dominant nonsense mutation in the RP1 gene (c.2098G>T p.E700X). Reprogramming of dermal fibroblasts was performed using episomal plasmids containing OCT4, SOX2, KLF4, L-MYC, LIN28, mir302/367 microRNA and shRNA for p53 to establish the clonal iPSC line LEIi005-B. LEIi005-B expressed pluripotent stem cell markers, had a normal karyotype and differentiated into endoderm, mesoderm and ectoderm.

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DO - 10.1016/j.scr.2019.101452

M3 - Article

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AN - SCOPUS:85064914979

VL - 37

JO - Stem Cell Research

JF - Stem Cell Research

SN - 1873-5061

M1 - 101452

ER -

Generation of an induced pluripotent stem cell line from a patient with retinitis pigmentosa caused by RP1 mutation

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From discovery to therapy in genetic eye diseases

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Generation of an induced pluripotent stem cell line from a patient with retinitis pigmentosa caused by RP1 mutation

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MRFF - Developing Personalised Treatment for Retinal Degeneration

From discovery to therapy in genetic eye diseases

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