TSC SEGA Atlas [snRNA-seq]

Tuberous Sclerosis Complex (TSC) is a genetic disorder characterized by benign growths called hamartomas that can be a significant cause of morbidity and mortality. Hamartomas are found along the neurocutaneous axis including along the brain's ventricles near the boundaries of the striatum. They can be categorized by size and include small subependymal nodules (SENs) or larger subependymal giant cell astrocytomas (SEGAs). SEGAs are associated with changes in neurological presentation and are a substantial cause of hydrocephalus if left untreated. Immunohistochemistry, electron microscopy, and bulk RNA sequencing have been used to examine SEGA cellular composition. However, there remains considerable debate over the results because bulk techniques do not parcellate transcriptomic changes within individual cells and SEGAs contain cells with abnormal morphology that betray canonical classification. Here, we describe a quantitative analysis of SEGA cell identities based on single nuclei RNA sequencing. Overall design: Single Nuclei RNA Sequencing of Tuberous Sclerosis Complex Subependymal Giant Cell Astrocytomas and Caudate Nucleus from Human Patients