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Cellosaurus GM27453 (CVCL_YE56)

[Text version]
Cell line name GM27453
Accession CVCL_YE56
Resource Identification Initiative To cite this cell line use: GM27453 (RRID:CVCL_YE56)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:15573; SETBP1; Simple; p.Ser867Arg (c.2601C>A); ClinVar=VCV001878636; Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM27453).
Disease Schinzel-Giedion midface-retraction syndrome (NCIt: C129308)
Schinzel-Giedion syndrome (ORDO: Orphanet_798)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_YE55 ! GM27452
Sex of cell Female
Age at sampling 4Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM27453
Encyclopedic resources Wikidata; Q93933240
Entry history
Entry creation19-Dec-2019
Last entry update19-Dec-2024
Version number10