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Cellosaurus GM05124 (CVCL_5N17)

[Text version]
Cell line name GM05124
Synonyms RB 5124
Accession CVCL_5N17
Resource Identification Initiative To cite this cell line use: GM05124 (RRID:CVCL_5N17)
Comments Part of: Genetic Testing Reference Material (GeT-RM) samples.
Population: Caucasian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Omics: CNV analysis.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 2928; DMD; Unexplicit; Ex45-62del; Zygosity=Hemizygous (PubMed=21354051).
Disease Duchenne muscular dystrophy (NCIt: C75482)
Duchenne muscular dystrophy (ORDO: Orphanet_98896)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_5N16 ! GM05123
Sex of cell Male
Age at sampling 16Y
Category Transformed cell line
Publications

PubMed=6726265; DOI=10.1136/jnnp.47.4.391; PMCID=PMC1027781
Robbins J.H., Scudiero D.A., Otsuka F., Tarone R.E., Brumback R.A., Wirtschafter J.D., Polinsky R.J., Barrett S.F., Moshell A.N., Scarpinato R.G., Ganges M.B., Nee L.E., Meyer S.A., Clatterbuck B.E.
Hypersensitivity to DNA-damaging agents in cultured cells from patients with Usher's syndrome and Duchenne muscular dystrophy.
J. Neurol. Neurosurg. Psychiatry 47:391-398(1984)

PubMed=21354051; DOI=10.1016/j.jmoldx.2010.11.018; PMCID=PMC3128550
Kalman L.V., Leonard J.C., Gerry N.P., Tarleton J.C., Bridges C., Gastier-Foster J.M., Pyatt R.E., Stonerock E., Johnson M.A., Richards C.S., Schrijver I., Ma T.-H., Miller V.R., Adadevoh Y., Furlong P., Beiswanger C.M., Toji L.H.
Quality assurance for Duchenne and Becker muscular dystrophy genetic testing: development of a genomic DNA reference material panel.
J. Mol. Diagn. 13:167-174(2011)

PubMed=23665875; DOI=10.1534/g3.113.006577; PMCID=PMC3704242
Tang Z.-Y., Berlin D.S., Toji L.H., Toruner G.A., Beiswanger C.M., Kulkarni S., Martin C.L., Emanuel B.S., Christman M., Gerry N.P.
A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds.
G3 (Bethesda) 3:1143-1149(2013)

Cross-references
Cell line collections (Providers) Coriell; GM05124
Cell line databases/resources CLO; CLO_0025357
Encyclopedic resources Wikidata; Q54838871
Entry history
Entry creation23-Feb-2016
Last entry update29-Jun-2023
Version number12