Projects per year
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 language | English |
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Article number | 101549 |
Journal | Stem Cell Research |
Volume | 40 |
DOIs | |
Publication status | Published - 1 Oct 2019 |
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Dive into the research topics of 'Generation of three induced pluripotent stem cell lines from an isolated inherited retinal dystrophy patient with RCBTB1 frameshifting mutations'. Together they form a unique fingerprint.Projects
- 2 Finished
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MRFF - Developing Personalised Treatment for Retinal Degeneration
National Health & Medical Research Council NHMRC
1/01/18 → 31/12/21
Project: Research
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From discovery to therapy in genetic eye diseases
Mackey, D., Craig, J., Hewitt, A., Burdon, K., Jamieson, R., Grigg, J., MacGregor, S., Chen, F., Otlowski, M. & Schofield, D.
National Health & Medical Research Council NHMRC
1/01/16 → 31/12/20
Project: Research