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Cellosaurus GM23127 (CVCL_U482)

[Text version]
Cell line name GM23127
Accession CVCL_U482
Resource Identification Initiative To cite this cell line use: GM23127 (RRID:CVCL_U482)
Comments Part of: Genetic Testing Reference Material (GeT-RM) samples.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:2928; DMD; Unexplicit; Ex27-28dup; Zygosity=Hemizygous (PubMed=21354051).
Disease Becker's muscular dystrophy (NCIt: C84587)
Becker muscular dystrophy (ORDO: Orphanet_98895)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling Age unspecified
Category Transformed cell line
Publications

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)

Cross-references
Cell line collections (Providers) Coriell; GM23127
Encyclopedic resources Wikidata; Q54852906
Entry history
Entry creation16-Apr-2014
Last entry update19-Dec-2024
Version number13