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

PubMed=6773986; DOI=10.1172/JCI109804; PMCID=PMC371478
Benjamin B. Gelman, Linda Papa, Michael H. Davis, Eric Gruenstein;
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
Mary Lee Stewart Ledbetter;
Increased ouabain sensitivity of cultured human fibroblasts from muscular dystrophy.
Am. J. Physiol. 247:C415-C423(1984)

PubMed=3863481; PMCID=PMC1684690
David Goldman, Lynn R. Goldin, Polavarapu Rathnagiri, Stephen James O'Brien, Janice A. Egeland, Carl Ronald Merril;
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
Richard A. Mulivor, Sharon F. Suchy;
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
Zhen-Ya Tang, Dorit S. Berlin, Lorraine H. Toji, Gokce Altay Toruner, Christine M. Beiswanger, Shashikant Kulkarni, Christa Lese Martin, Beverly S. Emanuel, Michael Christman, Norman P. Gerry;
A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds.
G3 (Bethesda) 3:1143-1149(2013)