Immortalisation of a mucopolysaccharidosis type IIIC fibroblast cell line via expression of SV40 T antigen.

Mucopolysaccharidosis type IIIC is caused by a deficiency of acetyl-CoA: alpha-glucosaminidase-N-acetyltransferase activity. This enzyme is unique among enzymes involved in the lysosomal degradation of glycosaminoglycans in that it catalyses an anabolic reaction, the addition of an acetyl group to glucosamine at the non-reducing terminus of heparan sulphate. We have identified a mucopolysaccharidosis type IIIC skin fibroblast cell line with undetectable levels of residual acetyl-CoA: alpha-glucosaminidase-N-acetyltransferase activity and immortalised it via expression of simian virus 40 large T antigen. Enzymatic analysis of two immortalised cell lines demonstrated that they both retained the original mucopolysaccharidosis IIIC phenotype. Variable number tandem repeat analysis confirmed that both were derived from the parental cell line.