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Cellosaurus GM05127 (CVCL_5N20)

[Text version]
Cell line name GM05127
Accession CVCL_5N20
Resource Identification Initiative To cite this cell line use: GM05127 (RRID:CVCL_5N20)
Comments Part of: Genetic Testing Reference Material (GeT-RM) samples.
Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 2928; DMD; Simple; p.Glu1845Ter (c.5533G>T); ClinVar=VCV000545963; 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)
Sex of cell Male
Age at sampling 18Y
Category Finite 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; GM05127
Cell line databases/resources CLO; CLO_0025358
Encyclopedic resources Wikidata; Q54838875
Entry history
Entry creation23-Feb-2016
Last entry update29-Jun-2023
Version number11