Year

2019

Degree Name

Doctor of Philosophy

Department

School of Chemistry and Molecular Bioscience

Abstract

Amyotrophic lateral sclerosis (ALS), the most common motor neuron disease, is a devastating fatal neurodegenerative condition. Mutations in CCNF, the gene encoding the E3 ubiquitin ligase cyclin F, have been recently identified to cause ALS. To examine the effects of the CCNFS621G mutation, three new induced pluripotent stem cell (iPSC) lines from two siblings with the same CCNFS621G mutation, and a healthy control, were generated through the employment of mRNA reprogramming. Characterisation of these stem cells indicated expression of pluripotency factors NANOG, and Oct4 (encoded by POU5F1) using immunocytochemistry and/or qRT-PCR. Karyotyping of the reprogrammed stem cells revealed no chromosomal abnormalities, and comparison to other established stem cell lines via bioinformatics assay (the PluriTest) indicated cells with typical iPSC characteristics.

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Unless otherwise indicated, the views expressed in this thesis are those of the author and do not necessarily represent the views of the University of Wollongong.