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Cellosaurus GM04981 (CVCL_8521)

[Text version]
Cell line name GM04981
Accession CVCL_8521
Resource Identification Initiative To cite this cell line use: GM04981 (RRID:CVCL_8521)
Comments Part of: Genetic Testing Reference Material (GeT-RM) samples.
Population: Caucasian.
Omics: CNV analysis.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 2928; DMD; Unexplicit; Ex45-53del; 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)
Hierarchy Children:
CVCL_C990 (DMD-iPS1 [Human iPSC Boston])CVCL_C992 (DMD-iPS2 [Human iPSC Boston])CVCL_F177 (GM23262)
Sex of cell Male
Age at sampling 6Y
Category Finite cell line
Publications

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

PubMed=18691744; DOI=10.1016/j.cell.2008.07.041; PMCID=PMC2633781
Park I.-H., Arora N., Huo H.-G., Maherali N., Ahfeldt T., Shimamura A., Lensch M.W., Cowan C.A., Hochedlinger K., Daley G.Q.
Disease-specific induced pluripotent stem cells.
Cell 134:877-886(2008)

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; GM04981
Cell line databases/resources CLO; CLO_0025653
Encyclopedic resources Wikidata; Q54838791
Entry history
Entry creation04-Apr-2012
Last entry update30-Jan-2024
Version number19