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

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

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