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Cellosaurus GM17868 (CVCL_H160)

[Text version]
Cell line name GM17868
Accession CVCL_H160
Resource Identification Initiative To cite this cell line use: GM17868 (RRID:CVCL_H160)
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 5 repeats) (Coriell=GM17868).
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_H161 ! GM17869
Sex of cell Female
Age at sampling 21Y
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; GM17868
Cell line databases/resources CLO; CLO_0016461
Encyclopedic resources Wikidata; Q54849293
Entry history
Entry creation11-Feb-2013
Last entry update19-Dec-2024
Version number16