Description:
HUNTINGTON DISEASE; HD
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Disorders of the Nervous System |
| Class |
Disorders with Trinucleotide Expansions |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Race
|
White
|
|
Family Member
|
1
|
|
Family History
|
Y
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
5 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| Remarks |
Choreoathetosis, dysarthria, and dysphagia; positive family history; see GM03642 Lymphoid |
| Mazzola JL, Sirover MA, Reduction of glyceraldehyde-3-phosphate dehydrogenase activity in Alzheimer's disease and in Huntington's disease fibroblasts. J Neurochem76(2):442-9 2001 |
| PubMed ID: 11208907 |
| |
| Etcheberrigaray E, Gibson GE, Alkon DL, Molecular mechanisms of memory and the pathophysiology of Alzheimer's disease. Ann N Y Acad Sci747:245-55 1994 |
| PubMed ID: 7847674 |
| |
| Ito E, Oka K, Etcheberrigaray R, Nelson TJ, McPhie DL, Tofel-Grehl B, Gibson GE, Alkon DL, Internal Ca2+ mobilization is altered in fibroblasts from patients with Alzheimer disease. Proc Natl Acad Sci U S A91:534-8 1994 |
| PubMed ID: 8290560 |
| |
| Etcheberrigaray R, Ito E, Oka K, Tofel-Grehl B, Gibson GE, Alkon DL, Potassium channel dysfunction in fibroblasts identifies patients with Alzheimer disease. Proc Natl Acad Sci U S A90:8209-13 1993 |
| PubMed ID: 8367484 |
| |
| Boorstein RJ, Pardee AB, Factors modifying 3-aminobenzamide cytotoxicity in normal and repair- deficient human fibroblasts. J Cell Physiol120:335-44 1984 |
| PubMed ID: 6746752 |
| |
| Chua CC, Geiman DE, Ladda RL, Detection of an Mr 200,000 glycoprotein in the culture medium of skin fibroblasts from patients with Huntington disease. Biochem Biophys Res Commun111:690-9 1983 |
| PubMed ID: 6220707 |
| |
| Hung WY, Tourian A, Differential labelling of UDP-N-acetylglucosamine in Huntington's- chorea fibroblasts. Biochem J196:495-8 1981 |
| PubMed ID: 6459085 |
| |
| Scudiero DA, Meyer SA, Clatterbuck BE, Tarone RE, Robbins JH, Hypersensitivity to N-methyl-N'-nitro-N-nitrosoguanidine in fibroblasts from patients with Huntington disease, familial dysautonomia, and other primary neuronal degenerations. Proc Natl Acad Sci U S A78:6451-5 1981 |
| PubMed ID: 6458814 |
| |
| Gray PN, May PC, Mundy L, Elkins J, L-Glutamate toxicity in Huntington's disease fibroblasts. Biochem Biophys Res Commun95:707-14 1980 |
| PubMed ID: 6448048 |
| |
| Hung WY, Mold DE, Tourian A, Huntington's-chorea fibroblasts. Cellular protein glycosylation. Biochem J190:711-9 1980 |
| PubMed ID: 6451218 |
| |
| Brown, Two-dimensional analysis of radiolabeled proteins in cultured Huntington's Disease fibroblasts. Adv Neurol23:361 (1979):711-9 1979 |
| PubMed ID: 6451218 |
| |
| Gray PN, Dana SL, GABA synthesis by cultured fibroblasts obtained from persons with Huntington's disease. J Neurochem33:985-92 1979 |
| PubMed ID: 159344 |
| Passage Frozen |
5 |
| Split Ratio |
1:4 |
| 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 |
- |
|
|