Reversal of C9orf72 Mutation-Induced Transcriptional Dysregulation and Pathology in Cultured Human Neurons by Allele-Specific Excision

Investigators generated five different genomic excisions at the C9orf72 locus in a patient-derived iPSC line and a non-diseased wild-type line, and examined gene expression and pathological hallmarks of C9 frontotemporal dementia/ALS in motor neurons differentiated from these lines.