Human Epilepsy Tools Core (HETC)

人类癫痫工具核心(HETC) 人胚胎干细胞和人诱导的多能干细胞 (HiPSCs)是人类神经系统疾病的重要模型。迈克尔博士 乌勒将担任HETC主任，Jack Parent博士将担任联席主任 该中心位于密歇根大学神经病学系。HETC将为以下项目提供支持 EpiMVP的三个项目，通过提供干细胞模型和分化方法为 未明显着性癫痫(VUS)的癫痫基因及其变种的特征。具体来说， HETC将为这些提供经过验证的杂合和纯合子hESC突变株 基因以及多西环素诱导的表达野生型和vus的转基因株系 每一个基因。此外，HETC将从患者的IPSC系中提取来自以下两种基因的基因 成纤维细胞或血液。最后，HETC将标准化和优化2D和3D神经元 供项目1和2中的调查人员使用的区分方案。因此，HETC将 作为人类干细胞来源的中央存储库和资源，同时提供 在这两个项目中，干细胞工作具有显著的经济性和质量控制。

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.