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Cellosaurus GM20073 (CVCL_1M98)

[Text version]
Cell line name GM20073
Accession CVCL_1M98
Resource Identification Initiative To cite this cell line use: GM20073 (RRID:CVCL_1M98)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:3258; EIF2B2; Simple; p.Glu213Gly (c.638A>G); ClinVar=VCV000004336; Zygosity=Heterozygous (Coriell=GM20073).
  • Mutation; HGNC; HGNC:3258; EIF2B2; Simple; p.Glu304Ter (c.910G>T); ClinVar=VCV000977721; Zygosity=Heterozygous (Coriell=GM20073).
Disease Leukoencephalopathy with vanishing white matter (NCIt: C122664)
Cree leukoencephalopathy (ORDO: Orphanet_99854)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 24Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM20073
Cell line databases/resources CLO; CLO_0028360
Encyclopedic resources Wikidata; Q54850792
Entry history
Entry creation08-Jul-2015
Last entry update19-Dec-2024
Version number14