Details of Experiment

Regulating Pair
       Introduced Variation Mutation (R132H) of IDH1 Protein Info
       Induced Change 2-Hydroxyglutarate concentration: increase Metabo Info
       Summary Introduced Variation         Induced Change 
Full List of Experiment(s) Validating This Regulating Pair
Details of Experiment for Validating This Pair [1], [2], [3]
       Method Quantifying the change of 2-hydroxyglutarate concentration after IDH1 mutant through LCMS based metabolomics.
       Disease Status Brain cancer ICD-11: 2A00
       Organ/Tissue/Cell Line U87MG cells (Human glioblastoma cells) Brain
LN-18 cells (Human glioblastoma cells) Brain
       Subcellular Location Cytoplasm (Cytosol); Peroxisome
       Tested Species   Species: Homo sapiens  (Click to Show/Hide the Complete Species Lineage)
Kingdom: Metazoa
Phylum: Chordata
Class: Mammalia
Order: Primates
Family: Hominidae
Genus: Homo
Species: Homo sapiens
       Details It is reported that R132H mutation of IDH1 leads to the increase of 2-hydroxyglutarate levels compared with control group in U87MG cells and LN-18 cells.
References
1 Cancer-associated IDH1 mutations produce 2-hydroxyglutarate. Nature. 2009 Dec 10;462(7274):739-44.
2 Mutant IDH1 Promotes Glioma Formation In Vivo. Cell Rep. 2018 May 1;23(5):1553-1564.
3 Autophagy and oxidative stress in gliomas with IDH1 mutations. Acta Neuropathol. 2014 Feb;127(2):221-33.

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