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Cellosaurus GM27412 (CVCL_XC48)

[Text version]
Cell line name GM27412
Accession CVCL_XC48
Resource Identification Initiative To cite this cell line use: GM27412 (RRID:CVCL_XC48)
Comments Population: Caucasian.
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.Arg497Ter (c.1489C>T); ClinVar=VCV000210050; Zygosity=Heterozygous (Coriell=GM27412).
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)
Originate from same individual CVCL_XC49 ! GM27353
Sex of cell Male
Age at sampling 3Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM27412
Encyclopedic resources Wikidata; Q93933228
Entry history
Entry creation06-Sep-2019
Last entry update19-Dec-2024
Version number10