Description:
HUNTINGTON DISEASE; HD
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Venezuelan Huntington Disease
Heritable Diseases |
| Class |
Disorders of the Nervous System |
| Class |
Disorders with Trinucleotide Expansions |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Race
|
White
|
|
Family Member
|
70
|
|
Relation to Proband
|
paternal cousin
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
2.12 |
| Passage Frozen |
2 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| Remarks |
Code 558; clinically affected; onset at age 31 years; both parents affected; affected sib is GM05689Z; 1st cousin to proband; see GM04868A Lymphoid |
| Kotowska-Zimmer A, Przybyl L, Pewinska M, Suszynska-Zajczyk J, Wronka D, Figiel M, Olejniczak M., A CAG repeat-targeting artificial miRNA lowers the mutant huntingtin level in the YAC128 model of Huntington's disease Molecular Therapy: Nucleic Acid28:702-715 2022 |
| PubMed ID: 35664700 |
| |
| Palminha NM, Dos Santos Souza C, Griffin J, Liao C, Ferraiuolo L, El-Khamisy SF, Defective repair of topoisomerase I induced chromosomal damage in Huntington's disease Cellular and molecular life sciences : CMLS79:160 2022 |
| PubMed ID: 35224690 |
| |
| Huang B, Seefelder M, Buck E, Engler T, Lindenberg KS, Klein F, Landwehrmeyer GB, Kochanek S, HAP40 protein levels are huntingtin-dependent and decrease in Huntington disease Neurobiology of disease79:105476 2021 |
| PubMed ID: 34390835 |
| |
| Pal A, Severin F, Lommer B, Shevchenko A, Zerial M, Huntingtin-HAP40 complex is a novel Rab5 effector that regulates early endosome motility and is up-regulated in Huntington's disease The Journal of cell biology172:605-18 2006 |
| PubMed ID: 16476778 |
| |
| Seo H, Sonntag KC, Isacson O, Generalized brain and skin proteasome inhibition in Huntington's disease Annals of neurology56:319-28 2004 |
| PubMed ID: 15349858 |
| Passage Frozen |
2 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| 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 |
| Supplement |
- |
|
|