Genetic Variants Associated with AD/ADRD

与 AD/ADRD 相关的遗传变异

• 批准号: 10012630
• 负责人: Mark Cookson
• 金额: $ 12.98万
• 依托单位: NATIONAL INSTITUTE ON AGING
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10012630
• 关键词: Address; Aging; Alzheimer' s Disease; Alzheimer' s disease related dementia; Automation; Biology; Cell Line; Cells; Clinical; Dementia; Disease; Event; Genes; Genetic; Genetic Drift; Genetic Variation; Genome; Human Genetics; Inherited; Laboratories; Linkage Disequilibrium; Mediating; Molecular; Mutation; Neurodegenerative Disorders; Oncogenic; Output; Population Genetics; Risk; Sampling; Source; Symptoms; System; Testing; Variant; genetic risk factor; genetic variant; genome editing; genome wide association study; induced pluripotent stem cell; lifetime risk; non-genetic; transcriptome sequencing; transcriptomics; whole genome

In this project, we plan to generate 200 new induced pluripotent stem cells (IPSCs) from donors whose whole genome sequence is already known. Due to the scale of this project, we have started to introduce laboratory automation in order to be able to handle and maintain a large number of cell lines. We have also identified donors from appropriate clinical sources and started to generate IPSC lines. We will test that the produced lines have the same genetic background as the original donors in the next few months to guard against sample mixups and genetic drift in the lines due to, for example, selection for cells that might have acquired oncogenic mutations.

在这个项目中，我们计划从全基因组序列已知的供体中产生200个新的诱导多能干细胞（IPSC）。由于该项目的规模，我们已经开始引入实验室自动化，以便能够处理和维护大量的细胞系。我们还从适当的临床来源鉴定了供体，并开始产生IPSC系。在接下来的几个月里，我们将测试所产生的细胞系是否与原始供体具有相同的遗传背景，以防止样品混淆和细胞系中的遗传漂移，例如，选择可能获得致癌突变的细胞。