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

Research output: Contribution to journalArticle

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 languageEnglish
Article number101549
JournalStem Cell Research
Volume40
DOIs
Publication statusPublished - 1 Oct 2019

Fingerprint

Retinal Dystrophies
Induced Pluripotent Stem Cells
Retinal Diseases
Cell Line
Mutation
MicroRNAs
Small Interfering RNA
Genes
Plasmids
Fibroblasts
Skin

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 = "10",
day = "1",
doi = "10.1016/j.scr.2019.101549",
language = "English",
volume = "40",
journal = "Stem Cell Research",
issn = "1873-5061",
publisher = "Pergamon",

}

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.

UR - http://www.scopus.com/inward/record.url?scp=85071727286&partnerID=8YFLogxK

U2 - 10.1016/j.scr.2019.101549

DO - 10.1016/j.scr.2019.101549

M3 - Article

VL - 40

JO - Stem Cell Research

JF - Stem Cell Research

SN - 1873-5061

M1 - 101549

ER -