Cellosaurus cell line LGMD2Cl11 (CVCL

Cellosaurus LGMD2Cl11 (CVCL_6B28)

Cross-references
Cell line name	LGMD2Cl11
Accession	CVCL_6B28
Resource Identification Initiative	To cite this cell line use: LGMD2Cl11 (RRID:CVCL_6B28)
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; Thigh, quadriceps skeletal muscle; UBERON=UBERON_0004498. Cell type: Myoblast; CL=CL_0000056.
Sequence variations	Mutation; HGNC; HGNC:3097; DYSF; Simple; c.*107T>A; ClinVar=VCV000290170; Zygosity=Heterozygous; Note=3'UTR mutation (PubMed=22040608). Mutation; HGNC; HGNC:3097; DYSF; Simple; p.Ser483Ter (c.1448C>A) (p.Ser515Ter, c.1544C>A); ClinVar=VCV000554057; Zygosity=Heterozygous (PubMed=22040608).
Disease	Limb-girdle muscular dystrophy type 2B (NCIt: C142080) Dysferlin-related limb-girdle muscular dystrophy R2 (ORDO: Orphanet_268)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Sex unspecified
Age at sampling	40Y
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)
Encyclopedic resources	Wikidata; Q54902462
Entry history
Entry creation	23-Feb-2016
Last entry update	19-Dec-2024
Version number	14