In vitro establishment of human fibroblasts of lysosomal diseases, GM1-gangliosidosis and Sandhoff disease, by transformation with origin-minus SV40 DNA.

The permanent human cell lines preserving defects of lysosomal enzymes, GM1-1019-SV and SA-1077-SV, were established from the respective fibroblasts from patients with GM1-gangliosidosis and Sandhoff disease by transfection with replication origin-minus simian virus 40 DNA. These cells grow rapidly without entering senescence during more than 120 population doublings. The activity of beta-galactosidase in GM1-1019-SV and of beta-N-acetylhexosaminidase in SA-1077-SV was respectively 40- and 180-fold lower than that of normal fibroblasts.