GM03771
LCL from B-Lymphocyte
Description:
TAY-SACHS DISEASE; TSD
|
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
|
|
Ethnicity
|
JEWISH
|
|
Family Member
|
2
|
|
Relation to Proband
|
brother
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| beta-N-acetylhexosaminidase (hexosaminidase A) |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.2.1.52 |
| |
| Remarks |
Jewish; severe tremor, moderate ataxia, mild dysarthria; hexosaminidase A deficiency in white cells and lymphoblasts |
| dbSNP |
dbSNP ID: 18093 |
| NCBI GTR |
272800 TAY-SACHS DISEASE; TSD |
| OMIM |
272800 TAY-SACHS DISEASE; TSD |
| Omim Description |
B VARIANT GM2 GANGLIOSIDOSIS |
| |
GM2-GANGLIOSIDOSIS, ADULT CHRONIC TYPE, INCLUDED |
| |
GM2-GANGLIOSIDOSIS, TYPE I |
| |
HEXA DEFICIENCYHEXOSAMINIDASE A, INCLUDED; HEXA, INCLUDED |
| |
HEXOSAMINIDASE A DEFICIENCY |
| |
HEXOSAMINIDASE A DEFICIENCY, ADULT TYPE, INCLUDED |
| |
TAY-SACHS DISEASE, JUVENILE, INCLUDED |
| |
TAY-SACHS DISEASE, PSEUDO-AB VARIANT, INCLUDED |
| |
TAY-SACHS DISEASE, VARIANT B1, INCLUDED |
| |
TAY-SACHS DISEASE; TSD |
| Split Ratio |
1:6 |
| 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 |
- |
|
|