Biochemical diagnosis of Hunter syndrome on Epstein-Barr virus-transformed lymphoblastoid cell lines.

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.