人类癫痫工具核心 (HETC)-猫眼课题宝

人类癫痫工具核心 (HETC)

批准号：

10455561

负责人：

MICHAEL D UHLER

金额：

$37.92万

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

项目状态：

未结题

起止时间：

2020-09-15 至 2025-07-31

来源：

https://reporter.nih.gov/project-details/10455561

关键词：

3-Dimensional Astrocytes Blood CRISPR/Cas technology Cell Differentiation process Cell Line Cells Clone Cells Clustered Regularly Interspaced Short Palindromic Repeats Core Facility Deletion Mutation Derivation procedure Development Disease model Doxycycline Embryo Engineering Epilepsy Fibroblasts Floor Funding Gene Mutation Generations Genes Genetic Genomics Glutamates 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 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 nerve stem cell nervous system disorder novel novel strategies operation pluripotency regenerative therapy relating to nervous system repository skills stem cell model stem cells tool transgene expression vector

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中文摘要

翻译

人类癫痫工具核心（HETC）人胚胎干细胞（hESC）和人诱导多能干细胞（hESC） hIPSC（hIPSC）代表了人类神经系统疾病的重要模型。Dr. Michael Uhler将担任主任，Jack Parent博士将担任HETC的联合主任它位于密歇根大学神经科。HETC将为 EpiMVP的三个项目，通过提供干细胞模型和分化方法，癫痫基因及其未知显著性变体的表征（VUS）。具体地说， HETC将为这些人提供经验证的杂合和纯合hESC突变系，基因以及表达野生型和VUS的多西环素诱导型转基因系，每个基因此外，HETC将从以下基因中获得基因的患者iPSC系：成纤维细胞或血液。最后，HETC将标准化和优化2D和3D神经元分化方案供研究者在项目1和2中使用。因此，HETC将作为人类干细胞衍生的中央储存库和资源，同时提供这两个项目中干细胞工作的显著经济性和质量控制。

英文摘要

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.

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