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Cellosaurus GM21941 (CVCL_HK17)

[Text version]
Cell line name GM21941
Accession CVCL_HK17
Resource Identification Initiative To cite this cell line use: GM21941 (RRID:CVCL_HK17)
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.Ile2118Ile (c.6354C>T); ClinVar=VCV000016449; Zygosity=Unspecified; Note=Causes in-frame skipping of exon 51 (Coriell=GM21941).
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 Age unspecified
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM21941
Encyclopedic resources Wikidata; Q54852233
Entry history
Entry creation01-Dec-2016
Last entry update19-Dec-2024
Version number15