Cellosaurus logo
expasy logo

Cellosaurus GM27172 (CVCL_UF17)

[Text version]
Cell line name GM27172
Accession CVCL_UF17
Resource Identification Initiative To cite this cell line use: GM27172 (RRID:CVCL_UF17)
Comments Population: Caucasian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:7883; NOTCH3; Simple; p.Arg141Cys (c.421C>T); ClinVar=VCV000447846; Zygosity=Heterozygous (Coriell=GM27172).
Disease CADASIL syndrome (NCIt: C84606)
CADASIL (ORDO: Orphanet_136)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling Adult
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM27172
Encyclopedic resources Wikidata; Q93933053
Entry history
Entry creation13-Nov-2018
Last entry update19-Dec-2024
Version number9