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Cellosaurus GM19988 (CVCL_F104)

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Cell line name GM19988
Accession CVCL_F104
Resource Identification Initiative To cite this cell line use: GM19988 (RRID:CVCL_F104)
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.Ser171Phe (c.512C>T); ClinVar=VCV000004339; Zygosity=Heterozygous (Coriell=GM19988).
  • Mutation; HGNC; HGNC:3258; EIF2B2; Simple; p.Met203Trpfs*2 (c.607_612delATGGCTinsTG); ClinVar=VCV000004340; Zygosity=Heterozygous (Coriell=GM19988).
Disease Leukoencephalopathy with vanishing white matter (NCIt: C122664)
CACH syndrome (ORDO: Orphanet_135)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 36Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM19988
Cell line databases/resources CLO; CLO_0028370
Encyclopedic resources Wikidata; Q54850768
Entry history
Entry creation22-Oct-2012
Last entry update10-Apr-2025
Version number17