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Cellosaurus GM27643 (CVCL_YN48)

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Cell line name GM27643
Accession CVCL_YN48
Resource Identification Initiative To cite this cell line use: GM27643 (RRID:CVCL_YN48)
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.Gln649Ter (c.1945C>T); ClinVar=VCV000217910; Zygosity=Heterozygous (Coriell=GM27643).
  • Mutation; HGNC; HGNC:4284; GJB2; Simple; p.Val91Serfs*11 (c.269dupT); ClinVar=VCV000177737; Zygosity=Heterozygous (Coriell=GM27643).
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 8Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM27643
Encyclopedic resources Wikidata; Q93933270
Entry history
Entry creation12-Mar-2020
Last entry update31-Mar-2026
Version number10