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Modeling the C9ORF72 repeat expansion mutation using human induced pluripotent stem cells.

TitleModeling the C9ORF72 repeat expansion mutation using human induced pluripotent stem cells.
Publication TypeJournal Article
Year of Publication2017
AuthorsSelvaraj BT, Livesey MR, Chandran S
JournalBrain Pathol
Volume27
Issue4
Pagination518-524
Date Published2017 Jul
ISSN1750-3639
Abstract

C9ORF72 repeat expansion is the most frequent causal genetic mutation giving rise to amyotrophic lateral sclerosis (ALS) and fronto-temporal dementia (FTD). The relatively recent discovery of the C9ORF72 repeat expansion in 2011 and the complexity of the mutation have meant that animal models that successfully recapitulate human C9ORF72 repeat expansion-mediated disease are only now emerging. Concurrent advances in the use of patient-derived induced pluripotent stem cells (iPSCs) to model aspects of neurological disease offers an additional approach for the study of C9ORF72 mutation. This review focuses on the opportunities of human C9ORF72 iPSC platforms to model pathological aspects of disease and how findings compare with other existing models of disease and post mortem data.

DOI10.1111/bpa.12520
Alternate JournalBrain Pathol.
PubMed ID28585384
Publication institute
CRM