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Cellosaurus GM27452 (CVCL_YE55)

[Text version]
Cell line name GM27452
Accession CVCL_YE55
Resource Identification Initiative To cite this cell line use: GM27452 (RRID:CVCL_YE55)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:15573; SETBP1; Simple; p.Ser867Arg (c.2601C>A); ClinVar=VCV001878636; Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM27452).
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_YE56 ! GM27453
Sex of cell Female
Age at sampling 4Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM27452
Encyclopedic resources Wikidata; Q93933236
Entry history
Entry creation19-Dec-2019
Last entry update19-Dec-2024
Version number9