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

Stem Cell Res. 2019 Oct:40:101549. doi: 10.1016/j.scr.2019.101549. Epub 2019 Aug 23.

Authors

Zhiqin Huang¹, Dan Zhang², Shang-Chih Chen², Jennifer A Thompson³, Terri McLaren⁴, Tina Lamey⁴, John N De Roach⁴, Samuel McLenachan⁵, Fred K Chen⁶

Affiliations

¹ Centre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, Western Australia, Australia.
² Lions Eye Institute, Nedlands, Western Australia, Australia.
³ Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia.
⁴ Centre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, Western Australia, Australia; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia.
⁵ Centre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, Western Australia, Australia; Lions Eye Institute, Nedlands, Western Australia, Australia. Electronic address: smclenachan@lei.org.au.
⁶ Centre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, Western Australia, Australia; Lions Eye Institute, Nedlands, Western Australia, Australia; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia; Department of Ophthalmology, Royal Perth Hospital, Perth, Western Australia, Australia.

PMID: 31494449
DOI: 10.1016/j.scr.2019.101549

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Cell Differentiation
Cell Line / cytology*
Cell Line / metabolism
Cells, Cultured
Female
Fibroblasts / cytology
Fibroblasts / metabolism
Frameshift Mutation
Guanine Nucleotide Exchange Factors / genetics*
Guanine Nucleotide Exchange Factors / metabolism
Humans
Induced Pluripotent Stem Cells / cytology*
Induced Pluripotent Stem Cells / metabolism
Kruppel-Like Factor 4
Kruppel-Like Transcription Factors / genetics
Kruppel-Like Transcription Factors / metabolism
Middle Aged
Octamer Transcription Factor-3 / genetics
Octamer Transcription Factor-3 / metabolism
Retinal Dystrophies / genetics*
Retinal Dystrophies / metabolism
Retinal Dystrophies / physiopathology
SOXB1 Transcription Factors / genetics
SOXB1 Transcription Factors / metabolism

Substances

Guanine Nucleotide Exchange Factors
KLF4 protein, human
Kruppel-Like Factor 4
Kruppel-Like Transcription Factors
Octamer Transcription Factor-3
POU5F1 protein, human
RCBTB1 protein, human
SOX2 protein, human
SOXB1 Transcription Factors