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Cellosaurus GM28396 (CVCL_D6X0)

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Cell line name GM28396
Accession CVCL_D6X0
Resource Identification Initiative To cite this cell line use: GM28396 (RRID:CVCL_D6X0)
Comments Population: Caucasian; Italian.
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.Trp390Ter (c.1169C>G); Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM28396).
  • Mutation; HGNC; HGNC:4135; GALT; Simple; p.Lys285Asn (c.855G>T); ClinVar=VCV000003621; Zygosity=Heterozygous (Coriell=GM28396).
Disease Galactosemia (NCIt: C84723)
Intellectual developmental disorder, autosomal dominant 40 (NCIt: C163754)
Galactosemia (ORDO: Orphanet_352)
CHAMP1-related intellectual disability-facial dysmorphism-behavioral abnormalities syndrome (ORDO: Orphanet_692193)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_D6X1 (GM29325)
Sex of cell Male
Age at sampling 1Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM28396
Entry history
Entry creation10-Sep-2024
Last entry update31-Mar-2026
Version number4