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


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. Copyright © 2019 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Huang Z, Zhang D, Chen SC, Thompson JA, McLaren T, Lamey T, De Roach JN, McLenachan S, Chen FK
Journal Stem cell research
Publication Date 2019 Oct;40:101549
PubMed 31494449
DOI 10.1016/j.scr.2019.101549

Research Projects

Cell Lines