Cellosaurus logo
expasy logo

Cellosaurus GM21994 (CVCL_HK53)

[Text version]
Cell line name GM21994
Accession CVCL_HK53
Resource Identification Initiative To cite this cell line use: GM21994 (RRID:CVCL_HK53)
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; c.8051+1G>A (IVS63+1G>A); ClinVar=VCV000042394; Zygosity=Unspecified; Note=Splice donor mutation (p.Val2751Ter) (Coriell=GM21994).
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 9Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM21994
Encyclopedic resources Wikidata; Q54852275
Entry history
Entry creation01-Dec-2016
Last entry update19-Dec-2024
Version number12