Biochemical and ultrastructural findings in Epstein-Barr virus-transformed lymphoid cell lines from type 1 Gaucher disease.
Lymphoid cell lines established by Epstein-Barr Virus (EBV)-transformation of peripheral blood B-lymphocytes from patients affected with type 1 Gaucher disease showed a severe deficiency of glucosylceramide-beta-glucosidase activity (residual activity around 15%-30% of control activity). Ultrastructural investigations showed, in these lymphoid cell lines from type 1 Gaucher disease, the presence of numerous membrane-bound inclusion bodies characteristic of Gaucher cells.
D000328:Adult; D001402:B-Lymphocytes / Q000201:enzymology / Q000648:ultrastructure*; D002460:Cell Line; D002472:Cell Transformation, Viral; D002478:Cells, Cultured; D005776:Gaucher Disease / Q000097:blood / Q000201:enzymology; D005959:Glucosidases / Q000097:blood*; D005962:Glucosylceramidase / Q000097:blood*; D004854:Herpesvirus 4, Human / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008854:Microscopy, Electron; D012016:Reference Values
D005959:Glucosidases; D005962:Glucosylceramidase