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Cellosaurus GM20746 (CVCL_DB01)

[Text version]
Cell line name GM20746
Accession CVCL_DB01
Resource Identification Initiative To cite this cell line use: GM20746 (RRID:CVCL_DB01)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:7436; MTHFR; Simple; p.Ala222Val (c.665C>T) (C677T); ClinVar=VCV000003520; Zygosity=Heterozygous (Coriell=GM20746).
  • Mutation; HGNC; HGNC:7436; MTHFR; Simple; p.Glu429Ala (c.1286A>C) (1298A>C); ClinVar=VCV000003521; Zygosity=Homozygous (Coriell=GM20746).
Disease 5' 10' methylenetetrahydrofolate reductase deficiency (NCIt: C84524)
Homocystinuria due to methylene tetrahydrofolate reductase deficiency (ORDO: Orphanet_395)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 34Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM20746
Cell line databases/resources CLO; CLO_0029005
Encyclopedic resources Wikidata; Q54851249
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number14