GM01017
LCL from B-Lymphocyte
Description:
METACHROMATIC LEUKODYSTROPHY
|
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
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Biochemical characterization after cell line submission to CCR
|
|
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 |
| |
| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a negative result with a primer for Yq11, DYS227. |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Remarks |
Juvenile type; HLA type A2,A29,B12,B16; same patient as GM01785; deficient arylsulfatase A in lymphoblast culture |
| 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 |
| NCBI GTR |
250100 METACHROMATIC LEUKODYSTROPHY; MLD |
| OMIM |
250100 METACHROMATIC LEUKODYSTROPHY; MLD |
| Omim Description |
ARYLSULFATASE A DEFICIENCY; ARSA DEFICIENCY |
| |
CEREBRAL SCLEROSIS, DIFFUSE, METACHROMATIC FORM |
| |
CEREBROSIDE SULFATASE DEFICIENCYARYLSULFATASE A, INCLUDED; ARSA, INCLUDED |
| |
METACHROMATIC LEUKODYSTROPHY, ADULT, INCLUDED |
| |
METACHROMATIC LEUKODYSTROPHY, JUVENILE, INCLUDED |
| |
METACHROMATIC LEUKODYSTROPHY, LATE-INFANTILE |
| |
METACHROMATIC LEUKOENCEPHALOPATHY |
| |
MLD |
| |
PSEUDOARYLSULFATASE A DEFICIENCY, INCLUDED |
| |
SULFATIDE LIPIDOSIS |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
20% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
|
|