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Cellosaurus GM02339 (CVCL_5M72)

[Text version]
Cell line name GM02339
Synonyms GM-2339; GM2339; HF-D
Accession CVCL_5M72
Resource Identification Initiative To cite this cell line use: GM02339 (RRID:CVCL_5M72)
Comments Population: Caucasian.
Omics: CNV analysis.
Derived from site: In situ; Fetus; UBERON=UBERON_0000323.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:2928; DMD; Unexplicit; Ex31-43del; Zygosity=Hemizygous (Coriell=GM02339).
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 20FW
Category Finite cell line
Publications

DOI=10.5962/bhl.title.4090
Coriell L.L., Greene A.E.
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977.
(In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977)

PubMed=6093571; DOI=10.1152/ajpcell.1984.247.5.C415
Ledbetter M.L.S.
Increased ouabain sensitivity of cultured human fibroblasts from muscular dystrophy.
Am. J. Physiol. 247:C415-C423(1984)

PubMed=3863481; PMCID=PMC1684690
Goldman D., Goldin L.R., Rathnagiri P., O'Brien S.J., Egeland J.A., Merril C.R.
Twenty-seven protein polymorphisms by two-dimensional electrophoresis of serum, erythrocytes, and fibroblasts in two pedigrees.
Am. J. Hum. Genet. 37:898-911(1985)

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=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; GM02339
Cell line databases/resources CLO; CLO_0033118
Encyclopedic resources Wikidata; Q54837441
Entry history
Entry creation23-Feb-2016
Last entry update19-Dec-2024
Version number12