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Cellosaurus GM27393 (CVCL_YN20)

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Cell line name GM27393
Accession CVCL_YN20
Resource Identification Initiative To cite this cell line use: GM27393 (RRID:CVCL_YN20)
Comments Population: Caucasian; English/German/Irish.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:7436; MTHFR; Simple; p.Ala222Val (c.665C>T) (C677T); ClinVar=VCV000003520; Zygosity=Unspecified (Coriell=GM27393).
  • Mutation; HGNC; HGNC:7436; MTHFR; Simple; p.Glu429Ala (c.1286A>C) (1298A>C); ClinVar=VCV000003521; Zygosity=Unspecified (Coriell=GM27393).
  • Mutation; HGNC; HGNC:7883; NOTCH3; Simple; p.Arg141Cys (c.421C>T); ClinVar=VCV000447846; Zygosity=Heterozygous (Coriell=GM27393).
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_VP80 ! GM27171
Sex of cell Female
Age at sampling 44Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM27393
Encyclopedic resources Wikidata; Q93933216
Entry history
Entry creation12-Mar-2020
Last entry update19-Dec-2024
Version number11