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
Chen, F. (Investigator 01)
NHMRC National Health and Medical Research Council
1/01/18 → 31/12/21
Project: Research
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From discovery to therapy in genetic eye diseases
Mackey, D. (Investigator 01), Craig, J. (Investigator 02), Hewitt, A. (Investigator 03), Burdon, K. (Investigator 04), Jamieson, R. (Investigator 05), Grigg, J. (Investigator 06), MacGregor, S. (Investigator 07), Chen, F. (Investigator 08), Otlowski, M. (Investigator 09) & Schofield, D. (Investigator 10)
NHMRC National Health and Medical Research Council
1/01/16 → 31/12/20
Project: Research
Research output
- 7 Citations
- 1 Doctoral Thesis
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Disease modelling and treatment development for RCBTB1-associated retinopathy
Huang, E., 2022, (Unpublished)Research output: Thesis › Doctoral Thesis
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