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Cellosaurus FSHDCl17 (CVCL_6B27)

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Cell line name FSHDCl17
Accession CVCL_6B27
Resource Identification Initiative To cite this cell line use: FSHDCl17 (RRID:CVCL_6B27)
Comments Genetic integration: Method=Transduction; Gene=HGNC; HGNC:11730; TERT.
Genetic integration: Method=Transduction; Gene=MGI; MGI:88357; Cdk4.
Genetic integration: Method=Transduction; Gene=UniProtKB; P00552; Klebsiella pneumoniae transposon Tn5 neo.
Genetic integration: Method=Transduction; Gene=UniProtKB; P13249; Streptomyces alboniger pac (PuroR).
Derived from site: In situ; Subscapularis muscle; UBERON=UBERON_0001129.
Cell type: Myoblast; CL=CL_0000056.
Sequence variations
  • Gene deletion; HGNC; HGNC:50800; DUX4; Zygosity=Unspecified; Note=D4Z4 repeat contraction (to 2 repeats) (PubMed=22040608).
Disease Facioscapulohumeral muscular dystrophy 1 (NCIt: C172704)
Facioscapulohumeral dystrophy (ORDO: Orphanet_269)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Sex unspecified
Age at sampling 27Y
Category Telomerase immortalized cell line
Publications

PubMed=22040608; DOI=10.1186/2044-5040-1-34; PMCID=PMC3235972
Kamel Mamchaoui, Capucine Trollet, Anne Bigot, Elisa Negroni, Soraya Chaouch, Annie Wolff, Prashanth Kumar Kandalla, Solenne Marie, James P. Di Santo, Jean Lacau St Guily, Francesco Muntoni ...Show all 21 authors... , Jihee Kim, Susanne Philippi, Simone Spuler, Nicolas Levy, Sergiu C. Blumen, Thomas Voit, Woodring Erik Wright, Ahmed Aamiri, Gillian Sandra Butler-Browne, Vincent Mouly; Show fewer authors
Immortalized pathological human myoblasts: towards a universal tool for the study of neuromuscular disorders.
Skelet. Muscle 1:34.1-34.11(2011)

Cross-references
Encyclopedic resources Wikidata; Q54835204
Entry history
Entry creation23-Feb-2016
Last entry update14-Aug-2025
Version number15