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Cellosaurus GM21995 (CVCL_HQ15)

[Text version]
Cell line name GM21995
Accession CVCL_HQ15
Resource Identification Initiative To cite this cell line use: GM21995 (RRID:CVCL_HQ15)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:3604; FBN2; Simple; p.Asp1115His (c.3343G>C) (D1114H, 3340G>C); ClinVar=VCV000000525; Zygosity=Unspecified (Coriell=GM21995).
Disease Congenital contractural arachnodactyly (NCIt: C129865)
Congenital contractural arachnodactyly (ORDO: Orphanet_115)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 67Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM21995
Encyclopedic resources Wikidata; Q54852277
Entry history
Entry creation01-Dec-2016
Last entry update19-Dec-2024
Version number13