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.
Momoi
T
T
Furuya
T
T
Suzuki
Y
Y
Sato
H
H
Yamaguchi
N
N
D002460:Cell Line; D002472:Cell Transformation, Viral; D004279:DNA, Viral / Q000502:physiology; D005347:Fibroblasts / Q000201:enzymology; D005733:Gangliosidoses / Q000201:enzymology / Q000473:pathology*; D006596:Hexosaminidases / Q000032:analysis; D006801:Humans; D008247:Lysosomes / Q000201:enzymology; D012497:Sandhoff Disease / Q000201:enzymology / Q000473:pathology*; D013539:Simian virus 40 / Q000235:genetics; D001616:beta-Galactosidase / Q000032:analysis; D001619:beta-N-Acetylhexosaminidases
D004279:DNA, Viral; D006596:Hexosaminidases; C021502:acid beta-galactosidase; D001616:beta-Galactosidase; D001619:beta-N-Acetylhexosaminidases