The Human Epilepsy Tools Core (HETC) functions as an independent unit housed with the Human Stem Cell and Gene Editing (HSCGE) core at the University of Michigan. The HETC provides critical reagents and protocols for the epilepsy-focused project of the U54 including patient-derived stem cells, CRISPR-generated stem cells models and expression vectors to characterize the variants. The HETC personnel interact closely with personnel from the GVCC and the three projects to facilitate studies of the epilepsy genes and variants.
Milestones for the core include generating stem cells with targeted gene mutations and transgenes in hPSCs using CRISPR-based methodologies, the development of iPSC lines from epilepsy patients for disease modeling and VUS studies and the differentiation of these human stem cells into neural progenitors, neurons or cortical organoids for the in vitro testing of VUS pathogenicity.
Professor, Research Professor
Department of Biological Chemistry, Michigan Neuroscience Institute
University of Michigan
William J Herdman Professor, Research Professor
Department of Neurology, Michigan Neuroscience Institute
University of Michigan
Research Specialist
Parent Lab
University of Michigan