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Cellosaurus GM21942 (CVCL_HK18)

[Text version]
Cell line name GM21942
Accession CVCL_HK18
Resource Identification Initiative To cite this cell line use: GM21942 (RRID:CVCL_HK18)
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.Cys1153Tyr (c.3458G>A); ClinVar=VCV000457194; Zygosity=Unspecified (Coriell=GM21942).
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 Age unspecified
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM21942
Encyclopedic resources Wikidata; Q54852234
Entry history
Entry creation01-Dec-2016
Last entry update30-Jan-2024
Version number10