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Cellosaurus FSHDCl17 (CVCL_6B27)

[Text version]
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; Transposon Tn5 neo.
Genetic integration: Method=Transduction; Gene=UniProtKB; P13249; S.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
Mamchaoui K., Trollet C., Bigot A., Negroni E., Chaouch S., Wolff A., Kandalla P.K., Marie S., Di Santo J.P., St Guily J.L., Muntoni F., Kim J., Philippi S., Spuler S., Levy N., Blumen S.C., Voit T., Wright W.E., Aamiri A., Butler-Browne G.S., Mouly V.
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 update19-Dec-2024
Version number13