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Cellosaurus GM21983 (CVCL_HK46)

[Text version]
Cell line name GM21983
Accession CVCL_HK46
Resource Identification Initiative To cite this cell line use: GM21983 (RRID:CVCL_HK46)
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.Arg1644Ter (c.4930C>T); ClinVar=VCV000200186; Zygosity=Unspecified (Coriell=GM21983).
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 38Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM21983
Encyclopedic resources Wikidata; Q54852268
Entry history
Entry creation01-Dec-2016
Last entry update19-Dec-2024
Version number11