GM04916
LCL from B-Lymphocyte
Description:
MULTIPLE SULFATASE DEFICIENCY
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
| Class |
Disorders of Lipid Metabolism |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
LCL from B-Lymphocyte
|
|
Race
|
White
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| cerebroside-sulfatase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.1.6.8; 23% activity. |
| |
| cerebroside-sulfatase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.1.6.8; 5% activity. |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| N-acetylgalactosamine-4-sulfatase |
Tempesta et al (Clin Chim Acta 202:149-166 1991) reported that this lymphoblast culture established from a patient with multiple sulfatase deficiency had dramatically reduced levels of cerebroside sulfatase arylsulfatase A arylsulfatase B and steroid sulfatase. EC Number: 3.1.6.12 |
| |
| Remarks |
Clinically affected; severely mentally retarded; dysostosis multiplex; ichthyotic rash; normal levels of arylsulfatase A present in 23% of tested fibroblasts and less than 5% in urine, leukocytes, and serum; elevated urinary sulfatides and mucopolysaccharides.
|
| Tempesta MC, Levade T, Salvayre R, Arylsulfatases A and B in EBV-transformed lymphoid cell lines: studies on their molecular forms in cells from patients with inborn sulfatase deficiencies. Comparative diagnostic value of enzymatic assays. Clin Chim Acta202:149-65 1991 |
| PubMed ID: 1687673 |
| |
| Burk, Multiple sulfatase deficiency (MSD): Clinical and biochemical studies in two patients. Am J Hum Genet33:72A (1981):149-65 1981 |
| PubMed ID: 1687673 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
|