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Human Epilepsy Tools Core (HETC)

人类癫痫工具核心 (HETC)

基本信息

批准号：
10670384
负责人：
MICHAEL D UHLER
金额：
$ 37.93万
依托单位：
UNIVERSITY OF MICHIGAN AT ANN ARBOR
依托单位国家：
美国
项目类别：
财政年份：
2020
资助国家：
美国
起止时间：
2020-09-15 至 2025-07-31
项目状态：
未结题

来源：
https://reporter.nih.gov/project-details/10670384
关键词：
3-Dimensional Astrocytes Blood CRISPR/Cas technology Cell Differentiation process Cell Line Cells Clone Cells Clustered Regularly Interspaced Short Palindromic Repeats Collaborations Core Facility Dedications Derivation procedure Development Disease model Doxycycline Embryo Engineering Epilepsy Fibroblasts Floor Funding Gene Mutation Generations Genes Genomics Glutamates Heterozygote Human Human Resources Individual Knock-in Knock-out Laboratories Lead Mediating Methods Michigan Modeling Motor Neurons Mutagenesis Mutation Neurologic Neurology Neuronal Differentiation Neurons Organoids Parents Pathogenicity Patients Peripheral Peripheral Blood Mononuclear Cell Play Procedures Protocols documentation Quality Control Research Research Personnel Resources Role Sampling Scientist Services Southern Blotting Specific qualifier value Standardization Techniques Testing Tissues Training Transgenes Transgenic Organisms Universities Validation Variant Work cell type design developmental disease differentiation protocol directed differentiation experience expression vector gene interaction genetic selection genetic variant genome editing human embryonic stem cell human embryonic stem cell line human pluripotent stem cell human stem cells in vitro testing induced pluripotent stem cell insertion/deletion mutation medical schools mutant mutation correction nerve stem cell nervous system disorder neural novel novel strategies operation pluripotency regenerative therapy repository skills stem cell model stem cells tool transgene expression vector

项目摘要

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.

人类癫痫工具核心（hetc）