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Cellosaurus GM27638 (CVCL_ZH91)

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Cell line name GM27638
Accession CVCL_ZH91
Resource Identification Initiative To cite this cell line use: GM27638 (RRID:CVCL_ZH91)
Comments Population: African American.
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=GM27638).
Disease Intellectual developmental disorder, autosomal dominant 40 (NCIt: C163754)
CHAMP1-related intellectual disability-facial dysmorphism-behavioral abnormalities syndrome (ORDO: Orphanet_692193)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 3Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM27638
Encyclopedic resources Wikidata; Q98126512
Entry history
Entry creation02-Jul-2020
Last entry update31-Mar-2026
Version number10