Description:
GALACTOSEMIA
APPARENTLY HEALTHY INDIVIDUAL
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Disorders of Carbohydrate Metabolism |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Race
|
White
|
|
Family Member
|
5
|
|
Relation to Proband
|
brother
|
|
Confirmation
|
Molecular characterization after cell line submission to CCR
|
|
ISCN
|
46,XY
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
6 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis and by Chromosome Analysis |
| |
| Remarks |
Normal transferase activity in erythrocytes; 46,XY; 2 affected sibs; negative for Q188R, R333W, and N314D GALT gene mutations |
| Blagoveshchenskaya A, Cheong FY, Rohde HM, Glover G, Knödler A, Nicolson T, Boehmelt G, Mayinger P, Integration of Golgi trafficking and growth factor signaling by the lipid phosphatase SAC1 The Journal of cell biology180:803-12 2008 |
| PubMed ID: 18299350 |
| |
| Kaneko I, Hazama-Shimada Y, Endo A, Inhibitory effects on lipid metabolism in cultured cells of ML-236B, a potent inhibitor of 3-hydroxy-3-methylglutaryl-coenzyme-A reductase. Eur J Biochem87:313-21 1978 |
| PubMed ID: 668696 |
| |
| Kaffe S, Beratis NG, Hirschhorn K, Greene AE, Coriell LL, Galactosemia. Repository identification Nos. GM-438 to GM-442. Cytogenet Cell Genet17:62-4 1976 |
| PubMed ID: 181209 |
| Passage Frozen |
6 |
| 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 |
- |
|
|