GM10719
LCL from B-Lymphocyte
Description:
SANDHOFF DISEASE
Repository
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NIGMS Human Genetic Cell Repository
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Subcollection |
Heritable Diseases Lysosomal Storage Diseases |
Class |
Disorders of Lipid Metabolism |
Biopsy Source
|
Peripheral vein
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Cell Type
|
B-Lymphocyte
|
Tissue Type
|
Blood
|
Transformant
|
Epstein-Barr Virus
|
Sample Source
|
LCL from B-Lymphocyte
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Race
|
White
|
Family Member
|
2
|
Relation to Proband
|
mother
|
Confirmation
|
Clinical summary/Case history
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
|
beta-N-acetylhexosaminidase (hexosaminidase) |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.2.1.52 |
|
beta-N-acetylhexosaminidase (hexosaminidase A) |
According to the submitter, biochemical test results for this subject showed increased enzyme activity. EC Number: 3.2.1.52 |
|
Remarks |
Clinically unaffected; heterozygote level of hexosaminidase activity & slightly elevated % of hex A in leukocytes & plasma |
dbSNP |
dbSNP ID: 16291 |
NCBI GTR |
268800 SANDHOFF DISEASE |
OMIM |
268800 SANDHOFF DISEASE |
Omim Description |
GM2-GANGLIOSIDOSIS, TYPE II |
|
HEXOSAMINIDASES A AND B DEFICIENCY; HEXB-HEXOSAMINIDASE B, INCLUDED; HEXB, INCLUDED |
|
SANDHOFF DISEASE |
|
SANDHOFF DISEASE, ADULT TYPE, INCLUDED |
|
SANDHOFF DISEASE, INFANTILE TYPE, INCLUDED |
|
SANDHOFF DISEASE, JUVENILE TYPE, INCLUDED |
Split Ratio |
1:4 |
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 |
- |
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