Cellosaurus logo
expasy logo

Cellosaurus GM21979 (CVCL_HK44)

[Text version]
Cell line name GM21979
Accession CVCL_HK44
Resource Identification Initiative To cite this cell line use: GM21979 (RRID:CVCL_HK44)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:3603; FBN1; Simple; p.Glu1260Ter (c.3778G>T); ClinVar=VCV000527164; Zygosity=Unspecified (Coriell=GM21979).
Disease Marfan syndrome (NCIt: C34807)
Marfan syndrome (ORDO: Orphanet_558)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 13Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM21979
Encyclopedic resources Wikidata; Q54852266
Entry history
Entry creation01-Dec-2016
Last entry update19-Dec-2024
Version number11