Generation of three induced pluripotent stem cell lines from an isolated inherited retinal dystrophy patient with RCBTB1 frameshifting mutations

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

doi:10.1016/j.scr.2019.101549

Generation of three induced pluripotent stem cell lines from an isolated inherited retinal dystrophy patient with RCBTB1 frameshifting mutations

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

Centre for Ophthalmology and Visual Science

Research output: Contribution to journal › Article

2 Citations (Scopus)

Abstract

Variants in RCBTB1 have been implicated in inherited retinal disease (IRD). Here, we generated induced pluripotent stem cells (iPSCs) from a 45-year-old female IRD patient harbouring compound heterozygous mutations in the RCBTB1 gene. Episomal plasmids containing OCT4, SOX2, KLF4, MYCL, LIN28, shRNA for TP53 and mir302/367 microRNA were employed to conduct the reprogramming of primary dermal fibroblasts. These iPSC lines provide a useful model for further investigations on the pathophysiological role of mutations in the RCBTB1 gene in IRD.

Original language	English
Article number	101549
Journal	Stem Cell Research
Volume	40
DOIs	https://doi.org/10.1016/j.scr.2019.101549
Publication status	Published - 1 Oct 2019

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MRFF - Developing Personalised Treatment for Retinal Degeneration
Chen, F.
National Health & Medical Research Council NHMRC
1/01/18 → 31/12/21
Project: Research
From discovery to therapy in genetic eye diseases
Mackey, D., Craig, J., Hewitt, A., Burdon, K., Jamieson, R., Grigg, J., MacGregor, S., Chen, F., Otlowski, M. & Schofield, D.
National Health & Medical Research Council NHMRC
1/01/16 → 31/12/20
Project: Research

Cite this

@article{95e9e3cb6e2c419082a938ed88194bdb,

title = "Generation of three induced pluripotent stem cell lines from an isolated inherited retinal dystrophy patient with RCBTB1 frameshifting mutations",

abstract = "Variants in RCBTB1 have been implicated in inherited retinal disease (IRD). Here, we generated induced pluripotent stem cells (iPSCs) from a 45-year-old female IRD patient harbouring compound heterozygous mutations in the RCBTB1 gene. Episomal plasmids containing OCT4, SOX2, KLF4, MYCL, LIN28, shRNA for TP53 and mir302/367 microRNA were employed to conduct the reprogramming of primary dermal fibroblasts. These iPSC lines provide a useful model for further investigations on the pathophysiological role of mutations in the RCBTB1 gene in IRD.",

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

year = "2019",

month = oct,

day = "1",

doi = "10.1016/j.scr.2019.101549",

language = "English",

volume = "40",

journal = "Stem Cell Research",

issn = "1873-5061",

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Generation of three induced pluripotent stem cell lines from an isolated inherited retinal dystrophy patient with RCBTB1 frameshifting mutations. / Huang, Zhiqin; Zhang, Dan; Chen, Shang Chih; Thompson, Jennifer A.; McLaren, Terri; Lamey, Tina; De Roach, John N.; McLenachan, Samuel ; Chen, Fred K.

In: Stem Cell Research, Vol. 40, 101549, 01.10.2019.

Research output: Contribution to journal › Article

TY - JOUR

T1 - Generation of three induced pluripotent stem cell lines from an isolated inherited retinal dystrophy patient with RCBTB1 frameshifting mutations

AU - Huang, Zhiqin

AU - Zhang, Dan

AU - Chen, Shang Chih

AU - Thompson, Jennifer A.

AU - McLaren, Terri

AU - Lamey, Tina

AU - De Roach, John N.

AU - McLenachan, Samuel

AU - Chen, Fred K.

PY - 2019/10/1

Y1 - 2019/10/1

N2 - Variants in RCBTB1 have been implicated in inherited retinal disease (IRD). Here, we generated induced pluripotent stem cells (iPSCs) from a 45-year-old female IRD patient harbouring compound heterozygous mutations in the RCBTB1 gene. Episomal plasmids containing OCT4, SOX2, KLF4, MYCL, LIN28, shRNA for TP53 and mir302/367 microRNA were employed to conduct the reprogramming of primary dermal fibroblasts. These iPSC lines provide a useful model for further investigations on the pathophysiological role of mutations in the RCBTB1 gene in IRD.

AB - Variants in RCBTB1 have been implicated in inherited retinal disease (IRD). Here, we generated induced pluripotent stem cells (iPSCs) from a 45-year-old female IRD patient harbouring compound heterozygous mutations in the RCBTB1 gene. Episomal plasmids containing OCT4, SOX2, KLF4, MYCL, LIN28, shRNA for TP53 and mir302/367 microRNA were employed to conduct the reprogramming of primary dermal fibroblasts. These iPSC lines provide a useful model for further investigations on the pathophysiological role of mutations in the RCBTB1 gene in IRD.

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VL - 40

JO - Stem Cell Research

JF - Stem Cell Research

SN - 1873-5061

M1 - 101549

ER -

Generation of three induced pluripotent stem cell lines from an isolated inherited retinal dystrophy patient with RCBTB1 frameshifting mutations

Abstract

Access to Document

MRFF - Developing Personalised Treatment for Retinal Degeneration

From discovery to therapy in genetic eye diseases

Cite this