Characterising day 90 human C9ORF72-ALS/FTD cerebral organoids at single cell level

A hexanucleotide repeat expansion (HRE) in C9ORF72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Human imaging and experimental studies hint at early changes in the brain in C9-ALS/FTD, which remain poorly understood. To define these changes, we used cerebral organoid models derived from C9-ALS/FTD patients and controls to create a single cell RNA sequencing dataset at day 90. Together, these dataset will help to shed light on initial pathologies crucial for understanding disease onset and the design of therapeutic strategies. iPSC derive cerebral organoids were generated as reported previously (Lancaster & Knoblich, 2014; Ormel et al., 2018). To study the cell types present in day 90, single cell RNA sequencing (scRNA-seq) was performed on HC (n=3 lines) and C9-ALS/FTD (n=3 lines) organoids