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Cellosaurus GM05089 (CVCL_8522)

[Text version]
Cell line name GM05089
Accession CVCL_8522
Resource Identification Initiative To cite this cell line use: GM05089 (RRID:CVCL_8522)
Comments Part of: Genetic Testing Reference Material (GeT-RM) samples.
Population: Caucasian.
Omics: Variations; CNV analysis.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:2928; DMD; Unexplicit; Ex3-5del; 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)
Originate from same individual CVCL_F116 ! GM05090
Sex of cell Male
Age at sampling 28Y
Category Finite cell line
Publications

PubMed=21354051; DOI=10.1016/j.jmoldx.2010.11.018; PMCID=PMC3128550
Lisa V. Kalman, Jay C. Leonard, Norman P. Gerry, Jack C. Tarleton, Christina Bridges, Julie M. Gastier-Foster, Robert E. Pyatt, Eileen Stonerock, Monique A. Johnson, C. Sue Richards, Iris Schrijver ...Show all 17 authors... , Tian-Hui Ma, Vanessa Rangel Miller, Yetsa Adadevoh, Pat Furlong, Christine M. Beiswanger, Lorraine H. Toji; Show fewer authors
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
Zhen-Ya Tang, Dorit S. Berlin, Lorraine H. Toji, Gokce Altay Toruner, Christine M. Beiswanger, Shashikant Kulkarni, Christa Lese Martin, Beverly S. Emanuel, Michael Christman, Norman P. Gerry;
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; GM05089
Cell line databases/resources CLO; CLO_0025323
Encyclopedic resources Wikidata; Q54838848
Entry history
Entry creation04-Apr-2012
Last entry update10-Apr-2025
Version number18