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Cellosaurus GM21815 (CVCL_HL14)

[Text version]
Cell line name GM21815
Accession CVCL_HL14
Resource Identification Initiative To cite this cell line use: GM21815 (RRID:CVCL_HL14)
Comments Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:2209; COL5A1; Simple; p.Gly530Ser (c.1588G>A); ClinVar=VCV000038863; Zygosity=Unspecified (Coriell=GM21815).
Disease Ehlers-Danlos syndrome, type I (NCIt: C125696)
Classical Ehlers-Danlos syndrome (ORDO: Orphanet_287)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_HL13 ! GM21814
Sex of cell Female
Age at sampling 49Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM21815
Encyclopedic resources Wikidata; Q54852168
Entry history
Entry creation01-Dec-2016
Last entry update19-Dec-2024
Version number11