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Cellosaurus GM21944 (CVCL_HK20)

[Text version]
Cell line name GM21944
Accession CVCL_HK20
Resource Identification Initiative To cite this cell line use: GM21944 (RRID:CVCL_HK20)
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.Cys1326Arg (c.3976T>C); ClinVar=VCV002137695; Zygosity=Heterozygous (Coriell=GM21944).
Disease Marfan syndrome (NCIt: C34807)
Marfan syndrome (ORDO: Orphanet_558)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_QX74 (ISMMSi001-A)CVCL_QX75 (ISMMSi001-B)
Sex of cell Female
Age at sampling 7Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM21944
Encyclopedic resources Wikidata; Q54852236
Entry history
Entry creation01-Dec-2016
Last entry update30-Jan-2024
Version number10