Cellosaurus cell line GM05127 (CVCL

Cellosaurus GM05127 (CVCL_5N20)

Cross-references
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; 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 Lisa V. Kalman, Jay C. Leonard, Norman Phillip 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 Hellenga 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)
Cell line collections (Providers)	Coriell; GM05127
Cell line databases/resources	CLO; CLO_0025358
Encyclopedic resources	Wikidata; Q54838875
Entry history
Entry creation	23-Feb-2016
Last entry update	19-Dec-2024
Version number	12