Cellosaurus logo
expasy logo

Cellosaurus GM27648 (CVCL_ZW63)

[Text version]
Cell line name GM27648
Accession CVCL_ZW63
Resource Identification Initiative To cite this cell line use: GM27648 (RRID:CVCL_ZW63)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:20311; CHAMP1; Simple; p.Lys618Glufs*13 (c.1850dupA); ClinVar=VCV000280855; Zygosity=Heterozygous (Coriell=GM27648).
Disease Mental retardation, autosomal dominant 40 (NCIt: C163754)
Autosomal dominant non-syndromic intellectual disability (ORDO: Orphanet_178469)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 4Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM27648
Encyclopedic resources Wikidata; Q102113923
Entry history
Entry creation29-Oct-2020
Last entry update19-Dec-2024
Version number7