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Cellosaurus GM22783 (CVCL_BV05)

[Text version]
Cell line name GM22783
Accession CVCL_BV05
Resource Identification Initiative To cite this cell line use: GM22783 (RRID:CVCL_BV05)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:6990; MECP2; Simple; p.Arg133Cys (c.397C>T) (p.Arg145Cys, c.433C>T); ClinVar=VCV000011809; Zygosity=Heterozygous (Coriell=GM22783).
Disease Rett syndrome (NCIt: C75488)
Rett syndrome (ORDO: Orphanet_778)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 11Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM22783
Encyclopedic resources Wikidata; Q54852803
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number10