ID   54-A11
AC   CVCL_F1JB
SY   Clone A11
RX   PubMed=22871573;
CC   Sequence variation: Gene deletion; HGNC; HGNC:50800; DUX4; Zygosity=Heterozygous; Note=D4Z4 repeat contraction (to 3 repeats) (PubMed=22871573).
CC   Genetic integration: Method=Transduction; Gene=HGNC; HGNC:11730; TERT.
CC   Genetic integration: Method=Transduction; Gene=MGI; MGI:88357; Cdk4.
CC   Genetic integration: Method=Transduction; Gene=UniProtKB; P00552; Klebsiella pneumoniae transposon Tn5 neo.
CC   Genetic integration: Method=Transduction; Gene=UniProtKB; P13249; Streptomyces alboniger pac (PuroR).
CC   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 bears the contraction (PubMed=22871573).
CC   Derived from site: In situ; Muscle, biceps brachii; UBERON=UBERON_0001507.
CC   Cell type: Myoblast; CL=CL_0000056.
DI   NCIt; C172704; Facioscapulohumeral muscular dystrophy 1
DI   ORDO; Orphanet_269; Facioscapulohumeral dystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_F1J3 ! 54-2
OI   CVCL_F1JC ! 54-3
OI   CVCL_F1JD ! 54-6
OI   CVCL_F1J8 ! 54-12
OI   CVCL_F1JE ! 54-A1
OI   CVCL_F1J9 ! 54-A2
OI   CVCL_F1JF ! 54-A4
OI   CVCL_F1JA ! 54-A5
OI   CVCL_F1JG ! 54-A10
SX   Male
AG   54Y
CA   Telomerase immortalized cell line
DT   Created: 27-11-25; Last updated: 27-11-25; Version: 1
//
RX   PubMed=22871573; DOI=10.1016/j.ajpath.2012.07.007; PMCID=PMC3463638;
RA   Meijer-Krom, Yvonne Duvera
RA   Dumonceaux, Julie
RA   Mamchaoui, Kamel
RA   den Hamer, Bianca
RA   Mariot, Virginie
RA   Negroni, Elisa
RA   Geng, Linda N.
RA   Martin, Nicolas
RA   Tawil, Rabi Nabil
RA   Tapscott, Stephen Justice
RA   van Engelen, Baziel G.M.
RA   Mouly, Vincent
RA   Butler-Browne, Gillian Sandra
RA   van der Maarel, Silvere Maria
RT   "Generation of isogenic D4Z4 contracted and noncontracted immortal
RT   muscle cell clones from a mosaic patient: a cellular model for FSHD.";
RL   Am. J. Pathol. 181:1387-1401(2012).
//