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Cellosaurus GM21960 (CVCL_HK33)

[Text version]
Cell line name GM21960
Accession CVCL_HK33
Resource Identification Initiative To cite this cell line use: GM21960 (RRID:CVCL_HK33)
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.Cys1361Tyr (c.4082G>A); ClinVar=VCV000519726; Zygosity=Heterozygous (Coriell=GM21960).
Disease Marfan syndrome (NCIt: C34807)
Marfan syndrome (ORDO: Orphanet_558)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_QX45 (ISMMSi002-A)CVCL_QX46 (ISMMSi002-B)
Sex of cell Female
Age at sampling 28Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM21960
Encyclopedic resources Wikidata; Q54852255
Entry history
Entry creation01-Dec-2016
Last entry update30-Jan-2024
Version number11