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Cellosaurus U-251MG IDH1 R132H (CVCL_A5HQ)

[Text version]
Cell line name U-251MG IDH1 R132H
Synonyms U251(R132H); U251R132H
Accession CVCL_A5HQ
Resource Identification Initiative To cite this cell line use: U-251MG IDH1 R132H (RRID:CVCL_A5HQ)
Comments Population: Caucasian.
Genetic integration: Method=Transfection/transduction; Gene=HGNC; 5382; IDH1 (Note=With p.Arg132His).
Genetic integration: Method=Transfection/transduction; Gene=UniProtKB; P13249; S.alboniger pac (PuroR).
Derived from site: In situ; Brain, parietal lobe; UBERON=UBERON_0001872.
Sequence variations
  • Mutation; HGNC; 9588; PTEN; Simple; p.Glu242Valfs*15 (c.723_724dupTG); ClinVar=VCV000536553; Zygosity=Unspecified (from parent cell line).
  • Mutation; HGNC; 11730; TERT; Simple; c.1-124C>T (c.228C>T) (C228T); Zygosity=Unspecified; Note=In promoter (from parent cell line).
  • Mutation; HGNC; 11998; TP53; Simple; p.Arg273His (c.818G>A); ClinVar=VCV000012366; Zygosity=Unspecified (from parent cell line).
Disease Astrocytoma (NCIt: C60781)
Astrocytoma (ORDO: Orphanet_94)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_0021 (U-251MG)
Sex of cell Male
Age at sampling 75Y
Category Cancer cell line
Publications

PubMed=33504762; DOI=10.1038/s41467-020-20752-6; PMCID=PMC7840755
Lita A., Pliss A., Kuzmin A., Yamasaki T., Zhang L.-M., Dowdy T., Burks C., de Val N., Celiku O., Ruiz-Rodado V., Nicoli E.-R., Kruhlak M.J., Andresson T., Das S., Yang C.-Z., Schmitt R., Herold-Mende C., Gilbert M.R., Prasad P.N., Larion M.
IDH1 mutations induce organelle defects via dysregulated phospholipids.
Nat. Commun. 12:614.1-614.16(2021)

Cross-references
Cell line databases/resources cancercelllines; CVCL_A5HQ
Encyclopedic resources Wikidata; Q107117146
Metabolomic databases MetaboLights; MTBLS1973
Entry history
Entry creation20-May-2021
Last entry update10-Sep-2024
Version number7