帕金森病基础数据倡议：推动从基因图谱到发病机制的高效转化。
The Foundational Data Initiative for Parkinson Disease: Enabling efficient translation from genetic maps to mechanism.
作者信息
Bressan Elisangela, Reed Xylena, Bansal Vikas, Hutchins Elizabeth, Cobb Melanie M, Webb Michelle G, Alsop Eric, Grenn Francis P, Illarionova Anastasia, Savytska Natalia, Violich Ivo, Broeer Stefanie, Fernandes Noémia, Sivakumar Ramiyapriya, Beilina Alexandra, Billingsley Kimberley J, Berghausen Joos, Pantazis Caroline B, Pitz Vanessa, Patel Dhairya, Daida Kensuke, Meechoovet Bessie, Reiman Rebecca, Courtright-Lim Amanda, Logemann Amber, Antone Jerry, Barch Mariya, Kitchen Robert, Li Yan, Dalgard Clifton L, Rizzu Patrizia, Hernandez Dena G, Hjelm Brooke E, Nalls Mike, Gibbs J Raphael, Finkbeiner Steven, Cookson Mark R, Van Keuren-Jensen Kendall, Craig David W, Singleton Andrew B, Heutink Peter, Blauwendraat Cornelis
机构信息
German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.
出版信息
Cell Genom. 2023 Feb 6;3(3):100261. doi: 10.1016/j.xgen.2023.100261. eCollection 2023 Mar 8.
The Foundational Data Initiative for Parkinson Disease (FOUNDIN-PD) is an international collaboration producing fundamental resources for Parkinson disease (PD). FOUNDIN-PD generated a multi-layered molecular dataset in a cohort of induced pluripotent stem cell (iPSC) lines differentiated to dopaminergic (DA) neurons, a major affected cell type in PD. The lines were derived from the Parkinson's Progression Markers Initiative study, which included participants with PD carrying monogenic PD variants, variants with intermediate effects, and variants identified by genome-wide association studies and unaffected individuals. We generated genetic, epigenetic, regulatory, transcriptomic, and longitudinal cellular imaging data from iPSC-derived DA neurons to understand molecular relationships between disease-associated genetic variation and proximate molecular events. These data reveal that iPSC-derived DA neurons provide a valuable cellular context and foundational atlas for modeling PD genetic risk. We have integrated these data into a FOUNDIN-PD data browser as a resource for understanding the molecular pathogenesis of PD.
帕金森病基础数据计划（FOUNDIN-PD）是一项国际合作项目，旨在为帕金森病（PD）提供基础资源。FOUNDIN-PD在一组分化为多巴胺能（DA）神经元的诱导多能干细胞（iPSC）系中生成了一个多层分子数据集，DA神经元是PD中主要受影响的细胞类型。这些细胞系源自帕金森病进展标志物计划研究，该研究包括携带单基因PD变异、具有中等效应变异以及通过全基因组关联研究鉴定出变异的PD患者和未受影响个体。我们从iPSC衍生的DA神经元中生成了遗传、表观遗传、调控、转录组和纵向细胞成像数据，以了解疾病相关遗传变异与近端分子事件之间的分子关系。这些数据表明，iPSC衍生的DA神经元为模拟PD遗传风险提供了有价值的细胞背景和基础图谱。我们已将这些数据整合到FOUNDIN-PD数据浏览器中，作为理解PD分子发病机制的资源。
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