Human Epilepsy Tools Core (HETC)

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HUMAN EPILEPSY TOOLS CORE (HETC) Both human embryonic stem cells (hESCs) and human induced pluripotent stem cells (hIPSCs) represent important models for human disorders of the nervous system. Dr. Michael Uhler will serve as the Director and Dr. Jack Parent will serve as the Co-Director of the HETC which is housed within the UM Neurology Department. The HETC will provide support to the three projects of the EpiMVP by providing stem cell models and differentiation methods for the characterization of epilepsy genes and their variants of unknown significant (VUS). Specifically, the HETC will provide validated heterozygous and homozygous hESC mutant lines for these genes as well as doxycycline-inducible transgenic lines that express the wildtype and VUS for each gene. In addition, the HETC will derive patient iPSC lines for the genes from either fibroblasts or blood. Finally, the HETC will standardize and optimize both 2D and 3D neuronal differentiation protocols for use by the investigators in Projects 1 and 2. Thus, the HETC will serve as a central repository and resource for human stem cell derivation while providing significant economy as well as quality control for stem cell work within the two projects.