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Cellosaurus GM17939 (CVCL_F205)

[Text version]
Cell line name GM17939
Accession CVCL_F205
Resource Identification Initiative To cite this cell line use: GM17939 (RRID:CVCL_F205)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Gene deletion; HGNC; HGNC:50800; DUX4; Zygosity=Heterozygous; Note=D4Z4 repeat contraction (to 3 repeats) (Coriell=GM17939).
Disease Facioscapulohumeral muscular dystrophy 1 (NCIt: C172704)
Facioscapulohumeral dystrophy (ORDO: Orphanet_269)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_F206 ! GM17940
Sex of cell Male
Age at sampling 13Y
Category Transformed cell line
Publications

CLPUB00573
Hampson A.
Transcriptional analysis of the human D4Z4 and mouse Dux arrays.
Thesis PhD (2012); University of Nottingham; Nottingham; United Kingdom

Cross-references
Cell line collections (Providers) Coriell; GM17939
Cell line databases/resources CLO; CLO_0016281
Encyclopedic resources Wikidata; Q54849339
Entry history
Entry creation22-Oct-2012
Last entry update19-Dec-2024
Version number16