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

GSE264012 Homo sapiens Expression profiling by high throughput sequencing 6 samples Submitted 2024/09/06 Platform GPL30173
Summary
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.
Published in
Molecular pathology, developmental changes and synaptic dysfunction in (pre-) symptomatic human C9ORF72-ALS/FTD cerebral organoids
van der Geest AT, Jakobs CE, Ljubikj T et al. · Acta neuropathologica communications 2024 · PMID 39289761 · doi:10.1186/s40478-024-01857-1
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Direct links to NCBI, no account and no request form: the whole study as GSE264012_RAW.tar, processed values as the series matrix, the supplementary file directory, and per-sample supplementary files for any of the 6 samples. Raw sequencing reads are also available from ENA.

Also filed as BioProject PRJNA1100550 and SRA study SRP501855. Searching any of these in the dataset finder brings you back here.

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