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Cellosaurus 54-A4 (CVCL_F1JF)

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Cell line name 54-A4
Synonyms Clone A4
Accession CVCL_F1JF
Resource Identification Initiative To cite this cell line use: 54-A4 (RRID:CVCL_F1JF)
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).
Donor information: While the patient is suffering from facioscapulohumeral muscular dystrophy 1 he is mosaic for the D4Z4 repeat contraction. The cells from which this cell line was derived were normal (PubMed=22871573).
Derived from site: In situ; Muscle, biceps brachii; UBERON=UBERON_0001507.
Cell type: Myoblast; CL=CL_0000056.
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_F1J3 ! 54-2
CVCL_F1JC ! 54-3
CVCL_F1JD ! 54-6
CVCL_F1J8 ! 54-12
CVCL_F1JE ! 54-A1
CVCL_F1J9 ! 54-A2
CVCL_F1JA ! 54-A5
CVCL_F1JG ! 54-A10
CVCL_F1JB ! 54-A11
Sex of cell Male
Age at sampling 54Y
Category Telomerase immortalized cell line
Publications

PubMed=22871573; DOI=10.1016/j.ajpath.2012.07.007; PMCID=PMC3463638
Yvonne Duvera Meijer-Krom, Julie Dumonceaux, Kamel Mamchaoui, Bianca den Hamer, Virginie Mariot, Elisa Negroni, Linda N. Geng, Nicolas Martin, Rabi Nabil Tawil, Stephen Justice Tapscott, Baziel G.M. van Engelen ...Show all 14 authors... , Vincent Mouly, Gillian Sandra Butler-Browne, Silvere Maria van der Maarel; Show fewer authors
Generation of isogenic D4Z4 contracted and noncontracted immortal muscle cell clones from a mosaic patient: a cellular model for FSHD.
Am. J. Pathol. 181:1387-1401(2012)

Entry history
Entry creation27-Nov-2025
Last entry update27-Nov-2025
Version number1