Cellosaurus logo
expasy logo

Cellosaurus GM27630 (CVCL_ZH90)

[Text version]
Cell line name GM27630
Accession CVCL_ZH90
Resource Identification Initiative To cite this cell line use: GM27630 (RRID:CVCL_ZH90)
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.Tyr709Ter (c.2127T>G); ClinVar=VCV000523879; Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM27630).
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 Male
Age at sampling 2Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM27630
Encyclopedic resources Wikidata; Q98126510
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number8