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Cellosaurus GM27171 (CVCL_VP80)

[Text version]
Cell line name GM27171
Accession CVCL_VP80
Resource Identification Initiative To cite this cell line use: GM27171 (RRID:CVCL_VP80)
Comments Population: Caucasian; English/German/Irish.
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=Unspecified (Coriell=GM27171).
  • Mutation; HGNC; HGNC:7436; MTHFR; Simple; p.Glu429Ala (c.1286A>C) (1298A>C); ClinVar=VCV000003521; Zygosity=Unspecified (Coriell=GM27171).
  • Mutation; HGNC; HGNC:7883; NOTCH3; Simple; p.Arg141Cys (c.421C>T); ClinVar=VCV000447846; Zygosity=Heterozygous (Coriell=GM27171).
Disease CADASIL syndrome (NCIt: C84606)
5' 10' methylenetetrahydrofolate reductase deficiency (NCIt: C84524)
CADASIL (ORDO: Orphanet_136)
Homocystinuria due to methylene tetrahydrofolate reductase deficiency (ORDO: Orphanet_395)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_YN20 ! GM27393
Sex of cell Female
Age at sampling 43Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM27171
Encyclopedic resources Wikidata; Q93933051
Entry history
Entry creation07-Sep-2018
Last entry update19-Dec-2024
Version number13