Establishment of an induced pluripotent stem cell line from a retinitis pigmentosa patient with compound heterozygous CRB1 mutation

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

doi:10.1016/j.scr.2018.08.001

Establishment of an induced pluripotent stem cell line from a retinitis pigmentosa patient with compound heterozygous CRB1 mutation

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

Research output: Contribution to journal › Article

1 Citation (Scopus)

Abstract

The human iPSC line LEIi006-A was generated from dermal fibroblasts from a patient with retinitis pigmentosa using episomal plasmids containing OCT4, SOX2, KLF4, L-MYC, LIN28, mir302/367 microRNA and shRNA for p53. The iPSC cells carry compound heterozygous mutations (c.1892A > G and c.2548G > A) in the CRB1 gene. LEIi006-A expressed pluripotent stem cell markers, had a normal karyotype and could be differentiated into endoderm, mesoderm and ectodermal lineages, as well as retinal organoids.

Original language	English
Pages (from-to)	147-151
Number of pages	5
Journal	Stem Cell Research
Volume	31
DOIs	https://doi.org/10.1016/j.scr.2018.08.001
Publication status	Published - 1 Aug 2018

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Zhang, X., Zhang, D., Chen, S. C., Lamey, T., Thompson, J. A., McLaren, T., De Roach, J. N., Chen, F. K., & McLenachan, S. (2018). Establishment of an induced pluripotent stem cell line from a retinitis pigmentosa patient with compound heterozygous CRB1 mutation. Stem Cell Research, 31, 147-151. https://doi.org/10.1016/j.scr.2018.08.001

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title = "Establishment of an induced pluripotent stem cell line from a retinitis pigmentosa patient with compound heterozygous CRB1 mutation",

abstract = "The human iPSC line LEIi006-A was generated from dermal fibroblasts from a patient with retinitis pigmentosa using episomal plasmids containing OCT4, SOX2, KLF4, L-MYC, LIN28, mir302/367 microRNA and shRNA for p53. The iPSC cells carry compound heterozygous mutations (c.1892A > G and c.2548G > A) in the CRB1 gene. LEIi006-A expressed pluripotent stem cell markers, had a normal karyotype and could be differentiated into endoderm, mesoderm and ectodermal lineages, as well as retinal organoids.",

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

year = "2018",

month = aug,

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doi = "10.1016/j.scr.2018.08.001",

language = "English",

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journal = "Stem Cell Research",

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Establishment of an induced pluripotent stem cell line from a retinitis pigmentosa patient with compound heterozygous CRB1 mutation. / Zhang, Xiao; Zhang, Dan; Chen, Shang Chih; Lamey, Tina; Thompson, Jennifer A.; McLaren, Terri; De Roach, John N.; Chen, Fred K.; McLenachan, Samuel.

In: Stem Cell Research, Vol. 31, 01.08.2018, p. 147-151.

Research output: Contribution to journal › Article

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