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Cellosaurus GM04569 (CVCL_8520)

[Text version]
Cell line name GM04569
Accession CVCL_8520
Resource Identification Initiative To cite this cell line use: GM04569 (RRID:CVCL_8520)
Comments Part of: Genetic Testing Reference Material (GeT-RM) samples.
Population: Caucasian.
Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 2928; DMD; None_reported; -; Zygosity=- (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_C925 (BMD-iPS1)CVCL_C926 (BMD-iPS4)CVCL_F176 (GM23230)
Sex of cell Male
Age at sampling 38Y
Category Finite cell line
Publications

PubMed=18691744; DOI=10.1016/j.cell.2008.07.041
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
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; GM04569
Cell line databases/resources CLO; CLO_0018878
Encyclopedic resources Wikidata; Q54838571
Entry history
Entry creation04-Apr-2012
Last entry update30-Jan-2024
Version number17