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Cellosaurus GM21990 (CVCL_HK51)

[Text version]
Cell line name GM21990
Accession CVCL_HK51
Resource Identification Initiative To cite this cell line use: GM21990 (RRID:CVCL_HK51)
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.Leu2159Ter (c.6423delG); Zygosity=Unspecified (Coriell=GM21990).
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 64Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM21990
Encyclopedic resources Wikidata; Q54852273
Entry history
Entry creation01-Dec-2016
Last entry update19-Dec-2024
Version number10