GM04913
Fibroblast from Spleen, Keloid
Description:
KRABBE DISEASE
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
| Class |
Disorders of Lipid Metabolism |
|
Biopsy Source
|
Keloid
|
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Spleen
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
Fibroblast from Spleen, Keloid
|
|
Race
|
White
|
|
Ethnicity
|
GREEK
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
4 |
| |
| galactosylceramidase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.2.1.46; 0% activity. |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| Remarks |
Spleen biopsy; positive family history; almost no detectable galactosylceramide B-galactosidase activity in brain, spleen, and cultured amniotic fluid cells; same patient as GM04914 |
| NCBI GTR |
245200 KRABBE DISEASE |
| OMIM |
245200 KRABBE DISEASE |
| Omim Description |
GALACTOCEREBROSIDASE DEFICIENCY |
| |
GALACTOSYLCERAMIDE BETA-GALACTOSIDASE DEFICIENCY |
| |
GALC DEFICIENCYGALACTOSYLCERAMIDASE, INCLUDED; GALC, INCLUDED |
| |
GLOBOID CELL LEUKODYSTROPHY; GLD; GCL |
| |
GLOBOID CELL LEUKOENCEPHALOPATHY |
| |
KRABBE DISEASE |
| Passage Frozen |
4 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
|
|