Description:
GALACTOSEMIA
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Heritable Diseases |
Class |
Disorders of Carbohydrate Metabolism |
Cell Type
|
Fibroblast
|
Transformant
|
Untransformed
|
Race
|
Black/African American
|
Family Member
|
2
|
Relation to Proband
|
brother
|
Confirmation
|
Clinical summary/Case history
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
Passage Frozen |
12 |
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
|
UDP-glucose--hexose-1-phosphate uridylyltransferase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 2.7.7.12; 0% activity. |
|
Remarks |
G6PD Type A; ATCC CCL 132; no detectable transferase activity in RBCs or fibroblasts; negative for Q188R, R333W, and N314D GALT gene mutations |
Tedesco TA, Miller KL, Galactosemia: alterations in sulfate metabolism secondary to galactose- 1-phosphate uridyltransferase deficiency. Science205:1395-7 1979 |
PubMed ID: 472754 |
|
Friedman TB, Yarkin RJ, Merril CR, Galactose and glucose metabolism in galactokinase deficient, galactose- 1-P-uridyl transferase deficient and normal human fibroblasts. J Cell Physiol85:569-78 1975 |
PubMed ID: 167035 |
|
Mellman WJ, Tedesco TA, Greene AE, Coriell LL, Galactosemia. Repository identification Nos. GM-52 and GM-53. Cytogenet Cell Genet15:198-9 1975 |
PubMed ID: 1192846 |
|
Baker, Galactosemia: Symptomatic and asymptomatic homozygotes in one negro sibship. J Pediatr68:551 (1966):198-9 1966 |
PubMed ID: 1192846 |
Passage Frozen |
12 |
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 |
10% fetal bovine serum Not inactivated |
Substrate |
None specified |
Subcultivation Method |
trypsin-EDTA |
Supplement |
- |
|
|