ID   GM02339
AC   CVCL_5M72
SY   GM-2339; GM2339; HF-D
DR   CLO; CLO_0033118
DR   Coriell; GM02339
DR   Wikidata; Q54837441
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=3863481;
RX   PubMed=6093571;
RX   PubMed=23665875;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 2928; DMD; Unexplicit; Ex31-43del; Zygosity=Hemizygous (Coriell=GM02339).
CC   Omics: CNV analysis.
CC   Derived from site: In situ; Fetus; UBERON=UBERON_0000323.
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C75482; Duchenne muscular dystrophy
DI   ORDO; Orphanet_98896; Duchenne muscular dystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   20FW
CA   Finite cell line
DT   Created: 23-02-16; Last updated: 30-01-24; Version: 11
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//
RX   DOI=10.5962/bhl.title.4090;
RA   Coriell L.L., Greene A.E.;
RT   "The human genetic mutant cell repository: list of genetic variants,
RT   chromosomal aberrations and normal cell cultures submitted to the
RT   repository. 4th edition. October 1977.";
RL   (In) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977).
//
RX   PubMed=3863481;
RA   Goldman D., Goldin L.R., Rathnagiri P., O'Brien S.J., Egeland J.A.,
RA   Merril C.R.;
RT   "Twenty-seven protein polymorphisms by two-dimensional electrophoresis
RT   of serum, erythrocytes, and fibroblasts in two pedigrees.";
RL   Am. J. Hum. Genet. 37:898-911(1985).
//
RX   PubMed=6093571; DOI=10.1152/ajpcell.1984.247.5.C415;
RA   Ledbetter M.L.S.;
RT   "Increased ouabain sensitivity of cultured human fibroblasts from
RT   muscular dystrophy.";
RL   Am. J. Physiol. 247:C415-C423(1984).
//
RX   PubMed=23665875; DOI=10.1534/g3.113.006577;
RA   Tang Z.-Y., Berlin D.S., Toji L.H., Toruner G.A., Beiswanger C.M.,
RA   Kulkarni S., Martin C.L., Emanuel B.S., Christman M., Gerry N.P.;
RT   "A dynamic database of microarray-characterized cell lines with
RT   various cytogenetic and genomic backgrounds.";
RL   G3 (Bethesda) 3:1143-1149(2013).
//