Cellosaurus logo
expasy logo

Cellosaurus GM20742 (CVCL_5K22)

[Text version]
Cell line name GM20742
Accession CVCL_5K22
Resource Identification Initiative To cite this cell line use: GM20742 (RRID:CVCL_5K22)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:9834; RAI1; Simple; p.Val925fs*8 (c.2773del29); Zygosity=Unspecified (Coriell=GM20742).
Disease Smith-Magenis syndrome (NCIt: C75469)
Smith-Magenis syndrome (ORDO: Orphanet_819)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 29Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM20742
Cell line databases/resources CLO; CLO_0028999
Encyclopedic resources Wikidata; Q54851245
Entry history
Entry creation14-Dec-2015
Last entry update19-Dec-2024
Version number12