title: Biochemical diagnosis of Hunter syndrome on Epstein-Barr virus-transformed lymphoblastoid cell lines.
abstract: Long-term lymphoblastoid cell lines have been established from a patient with Hunter syndrome, from his mother, an obligate heterozygote, and from several control individuals. Biochemical analyses show that lymphoblastoid cells represent a suitable biological material for the diagnosis of hemizygous, affected males and for heterozygous females: clonal analysis demonstrates the mosaicism predicted by the Lyon hypothesis.
authors.affiliation: Istituto di Biochimica Cellulare e Molecolare, 2nd Medical School, University of Naples, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Morabito
authors.forename: I
authors.initials: I
authors.lastname: Giambarrasi
authors.forename: M
authors.initials: M
authors.lastname: Rocchi
authors.forename: P
authors.initials: P
authors.lastname: Di Natale
mesh_terms: D002461:Cell Line, Transformed / Q000166:cytology / Q000201:enzymology; D002472:Cell Transformation, Viral; D002553:Cerebroside-Sulfatase / Q000378:metabolism; D002999:Clone Cells / Q000145:classification; D005260:Female; D004854:Herpesvirus 4, Human; D006579:Heterozygote; D006801:Humans; D007066:Iduronate Sulfatase / Q000378:metabolism; D008213:Lymphocyte Activation; D008297:Male; D009030:Mosaicism; D016532:Mucopolysaccharidosis II / Q000175:diagnosis*
chemical_list: D007066:Iduronate Sulfatase; D002553:Cerebroside-Sulfatase