Cellosaurus logo
expasy logo

Cellosaurus GM21957 (CVCL_HK31)

[Text version]
Cell line name GM21957
Accession CVCL_HK31
Resource Identification Initiative To cite this cell line use: GM21957 (RRID:CVCL_HK31)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 3603; FBN1; Simple; p.Cys832Tyr (c.2495G>A); ClinVar=VCV000042311; Zygosity=Unspecified (Coriell=GM21957).
Disease Marfan syndrome (NCIt: C34807)
Marfan syndrome (ORDO: Orphanet_558)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 31Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM21957
Encyclopedic resources Wikidata; Q54852253
Entry history
Entry creation01-Dec-2016
Last entry update30-Jan-2024
Version number10