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Cellosaurus GM22766 (CVCL_5K24)

[Text version]
Cell line name GM22766
Accession CVCL_5K24
Resource Identification Initiative To cite this cell line use: GM22766 (RRID:CVCL_5K24)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Omics: CNV analysis.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:9834; RAI1; Simple; p.Ala75Ser (c.223G>T); ClinVar=VCV000588756; Zygosity=Unspecified (Coriell=GM22766).
Disease Smith-Magenis syndrome (NCIt: C75469)
Smith-Magenis syndrome (ORDO: Orphanet_819)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 7Y
Category Transformed cell line
Publications

PubMed=23665875; DOI=10.1534/g3.113.006577; PMCID=PMC3704242
Tang Z.-Y., Berlin D.S., Toji L.H., Toruner G.A., Beiswanger C.M., Kulkarni S., Martin C.L., Emanuel B.S., Christman M., Gerry N.P.
A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds.
G3 (Bethesda) 3:1143-1149(2013)

Cross-references
Cell line collections (Providers) Coriell; GM22766
Encyclopedic resources Wikidata; Q54852785
Entry history
Entry creation14-Dec-2015
Last entry update19-Dec-2024
Version number14