Correction of amyotrophic lateral sclerosis related phenotypes in induced pluripotent stem cell-derived motor neurons carrying a hexanucleotide expansion mutation in C9orf72 by CRISPR/Cas9 genome editing using homology-directed repair
The G4C2 hexanucleotide repeat expansion (HRE) in C9orf72 is the commonest cause of familial amyotrophic lateral sclerosis (ALS). A number of different methods have been used to generate isogenic control lines using CRISPR (clustered regularly interspaced short palindromic repeats)/Cas9 and non-homologous end-joining (NHEJ) by deleting the repeat region, with the risk of creating indels and genomic instability. In this study we demonstrate complete correction of an induced pluripotent stem ce...Expand abstract
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- Ababneh et al.
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- This is the accepted manuscript version of the article. The final version is available online from Oxford University Press at: https://doi.org/10.1093/hmg/ddaa106
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