Description:
HUNTINGTON DISEASE; HD
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of the Nervous System |
| Class |
Disorders with Trinucleotide Expansions |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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White
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Family Member
|
10
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Relation to Proband
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daughter
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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|
| PDL at Freeze |
3.86 |
| Passage Frozen |
6 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis and by Chromosome Analysis |
| |
| Remarks |
onset at age 18 years; HTT CAG repeats are 18 and 60; similarly affected grandmother and father; see GM03620A Lymphoid. |
| Duarte F, Ramosaj M, Hasanovic E, Regio S, Sipion M, Rey M, Déglon N, Semi-automated workflows to quantify AAV transduction in various brain areas and predict gene editing outcome for neurological disorders Molecular therapy Methods & clinical development29:254-270 2023 |
| PubMed ID: 37090478 |
| |
| Xu S, Li G, Ye X, Chen D, Chen Z, Xu Z, Daniele M, Tambone S, Ceccacci A, Tomei L, Ye L, Yu Y, Solbach A, Farmer SM, Stimming EF, McAllister G, Marchionini DM, Zhang S, HAP40 is a conserved central regulator of Huntingtin and a potential modulator of Huntington's disease pathogenesis PLoS genetics18:e1010302 2022 |
| PubMed ID: 35853002 |
| |
| Hu D, Sun X, Magpusao A, Fedorov Y, Thompson M, Wang B, Lundberg K, Adams DJ, Qi X, Small-molecule suppression of calpastatin degradation reduces neuropathology in models of Huntington's disease Nature communications12:5305 2020 |
| PubMed ID: 34489447 |
| |
| Di Pardo A, Monyror J, Morales LC, Kadam V, Lingrell S, Maglione V, Wozniak RW, Sipione S, Mutant huntingtin interacts with the sterol regulatory element-binding proteins and impairs their nuclear import Human molecular genetics12:5305 2019 |
| PubMed ID: 31875875 |
| |
| Imbert M, Blandel F, Leumann C, Garcia L, Goyenvalle A, Lowering Mutant Huntingtin Using Tricyclo-DNA Antisense Oligonucleotides As a Therapeutic Approach for Huntington's Disease Nucleic acid therapeutics29:256-265 2019 |
| PubMed ID: 31184975 |
| |
| 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 |
| |
| Wong, Sodium-independent glutamic acid binding in cultured fibroblasts from patients with Huntington's disease. Neurochem Int6:245 (1984):605-18 1984 |
| PubMed ID: 16476778 |
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| 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 |
| Passage Frozen |
6 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| Medium |
Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
Gelatin |
| Supplement |
- |
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