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Cellosaurus GM16547 (CVCL_4F41)

[Text version]
Cell line name GM16547
Accession CVCL_4F41
Resource Identification Initiative To cite this cell line use: GM16547 (RRID:CVCL_4F41)
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.Gln244Ter (c.730C>T) (p.Gln256Ter, c.766C>T); ClinVar=VCV000095200; Zygosity=Heterozygous (Coriell=GM16547).
Disease Rett syndrome (NCIt: C75488)
Rett syndrome (ORDO: Orphanet_778)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_4F42 ! GM16548
Sex of cell Female
Age at sampling 5Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM16547
Cell line databases/resources CLO; CLO_0017558
Encyclopedic resources Wikidata; Q54848633
Entry history
Entry creation22-Sep-2015
Last entry update19-Dec-2024
Version number13