Summary of Study ST002979

This data is available at the NIH Common Fund's National Metabolomics Data Repository (NMDR) website, the Metabolomics Workbench,, where it has been assigned Project ID PR001855. The data can be accessed directly via it's Project DOI: 10.21228/M8XT6T This work is supported by NIH grant, U2C- DK119886.


This study contains a large results data set and is not available in the mwTab file. It is only available for download via FTP as data file(s) here.

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Study IDST002979
Study TitleUntargeted lipidomics profiling of TSC microglia
Study SummaryIn this study, human microglia from induced pluripotent stem cells (iPSCs) derived from a TSC patient cohort were generated . With a comprehensively molecular and cellular characterization on TSC microglia, including transcriptomics, proteomics/phosphopreteomics, and lipidomics, patient-carrying TSC2 mutations lead to aberrant lipid metabolism were found, in particular, upregulated glycerophosphocholines and fatty acyls in TSC microglia, resulting in increased phagocytosis and inflammation. Strikingly, the dysregulated lipid metabolism in TSC microglia is driven by hyper-activation of mTOR-LPL pathway. Furthermore, cellular and electrophysiological assessments of neuron/microglia co-cultures revealed that TSC microglia directly affect neuronal development and excitability as well as neuronal network activity, which could be largely ameliorated by mTOR/LPL inhibition
St Jude Children's Research Hospital
Last NameXie
First NameBoer
Address262 Danny Thomas Place, Memphis, TN, 38105, USA
Phone(901) 595-7499
Submit Date2023-11-09
Raw Data AvailableYes
Raw Data File Type(s)raw(Thermo)
Analysis Type DetailLC-MS
Release Date2023-11-17
Release Version1
Boer Xie Boer Xie application/zip

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Project ID:PR001855
Project DOI:doi: 10.21228/M8XT6T
Project Title:Integrated multi-omics reveals mTOR-LPL-driven dysregulated lipid metabolism induces neuronal hyperexcitability in human microglia of tuberous sclerosis complex
Project Summary:Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder caused by mutations in either TSC1 or TSC2. There's evidence suggests a connection between microglia activation and epilepsy as well as cognitive impairment in TSC patients. However, how the causal variants of TSC1/2 genes identified in TSC patients affect human microglia and how they contribute to the neurological manifestations. This project is focus on this problem using human microglia generated from induced pluripotent stem cells (iPSCs) derived from a TSC patient.
Institute:St Jude Children's Research Hospital
Last Name:Xie
First Name:Boer
Address:262 Danny Thomas Place, Memphis, TN, 38105, USA
Phone:(901) 595-7499