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Cellosaurus GM27912 (CVCL_A9ZJ)

[Text version]
Cell line name GM27912
Accession CVCL_A9ZJ
Resource Identification Initiative To cite this cell line use: GM27912 (RRID:CVCL_A9ZJ)
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.Gln657Ter (c.1969C>T); ClinVar=VCV000217916; Zygosity=Heterozygous (Coriell=GM27912).
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 16Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM27912
Encyclopedic resources Wikidata; Q102113945
Entry history
Entry creation29-Oct-2020
Last entry update19-Dec-2024
Version number7