ID   GM04327
AC   CVCL_5M93
SY   GM4327
DR   CLO; CLO_0019536
DR   Coriell; GM04327
DR   Wikidata; Q54838485
RX   CelloPub=CLPUB00447;
RX   PubMed=3863481;
RX   PubMed=21354051;
RX   PubMed=23665875;
CC   Part of: Genetic Testing Reference Material (GeT-RM) samples.
CC   Population: Caucasian; Sardinian.
CC   Sequence variation: Mutation; HGNC; 2928; DMD; Unexplicit; Ex5-7dup; Zygosity=Hemizygous (PubMed=21354051).
CC   Omics: CNV analysis.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C75482; Duchenne muscular dystrophy
DI   ORDO; Orphanet_98896; Duchenne muscular dystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   23Y
CA   Finite cell line
DT   Created: 23-02-16; Last updated: 29-06-23; Version: 12
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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   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=21354051; DOI=10.1016/j.jmoldx.2010.11.018;
RA   Kalman L.V., Leonard J.C., Gerry N.P., Tarleton J.C., Bridges C.,
RA   Gastier-Foster J.M., Pyatt R.E., Stonerock E., Johnson M.A.,
RA   Richards C.S., Schrijver I., Ma T.-H., Miller V.R., Adadevoh Y.,
RA   Furlong P., Beiswanger C.M., Toji L.H.;
RT   "Quality assurance for Duchenne and Becker muscular dystrophy genetic
RT   testing: development of a genomic DNA reference material panel.";
RL   J. Mol. Diagn. 13:167-174(2011).
//
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).
//