Generation of three induced pluripotent stem cell lines from an isolated inherited retinal dystrophy patient with RCBTB1 frameshifting mutations.
Cell Differentiation
Cell Line
/ cytology
Cells, Cultured
Female
Fibroblasts
/ cytology
Frameshift Mutation
Guanine Nucleotide Exchange Factors
/ genetics
Humans
Induced Pluripotent Stem Cells
/ cytology
Kruppel-Like Factor 4
Kruppel-Like Transcription Factors
/ genetics
Middle Aged
Octamer Transcription Factor-3
/ genetics
Retinal Dystrophies
/ genetics
SOXB1 Transcription Factors
/ genetics
Journal
Stem cell research
ISSN: 1876-7753
Titre abrégé: Stem Cell Res
Pays: England
ID NLM: 101316957
Informations de publication
Date de publication:
10 2019
10 2019
Historique:
received:
02
08
2019
revised:
17
08
2019
accepted:
21
08
2019
pubmed:
9
9
2019
medline:
7
5
2020
entrez:
9
9
2019
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 31494449
pii: S1873-5061(19)30179-5
doi: 10.1016/j.scr.2019.101549
pii:
doi:
Substances chimiques
Guanine Nucleotide Exchange Factors
0
KLF4 protein, human
0
Kruppel-Like Factor 4
0
Kruppel-Like Transcription Factors
0
Octamer Transcription Factor-3
0
POU5F1 protein, human
0
RCBTB1 protein, human
0
SOX2 protein, human
0
SOXB1 Transcription Factors
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
101549Informations de copyright
Copyright © 2019 The Authors. Published by Elsevier B.V. All rights reserved.