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Cellosaurus GM17583 (CVCL_4F47)

[Text version]
Cell line name GM17583
Accession CVCL_4F47
Resource Identification Initiative To cite this cell line use: GM17583 (RRID:CVCL_4F47)
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.Leu100Val (c.298C>G) (p.Leu112Val, c.334C>G); ClinVar=VCV000011835; Zygosity=Heterozygous (Coriell=GM17583).
Disease 47,XXX syndrome (NCIt: C129718)
Rett syndrome (NCIt: C75488)
Trisomy X (ORDO: Orphanet_3375)
Rett syndrome (ORDO: Orphanet_778)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 7Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM17583
Cell line databases/resources CLO; CLO_0016983
Encyclopedic resources Wikidata; Q54848978
Entry history
Entry creation22-Sep-2015
Last entry update19-Dec-2024
Version number13