• Mutation; HGNC; 2928; DMD; Unexplicit; Ex45-50del; Zygosity=Hemizygous (Coriell=GM03429).
  

PubMed=6773986; DOI=10.1172/JCI109804
Gelman B.B., Papa L., Davis M.H., Gruenstein E.
Decreased lysosomal dipeptidyl aminopeptidase I activity in cultured human skin fibroblasts in Duchenne's muscular dystrophy.
J. Clin. Invest. 65:1398-1406(1980)

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
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) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992)

PubMed=23665875; DOI=10.1534/g3.113.006577
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)