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
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22
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Relation to Proband
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cousin
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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 |
4.9 |
| Passage Frozen |
4 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| Remarks |
Son of GM04210; see GM04209 Lymphoid; 1st cousin twice removed to proband |
| Liu C, Fu Z, Wu S, Wang X, Zhang S, Chu C, Hong Y, Wu W, Chen S, Jiang Y, Wu Y, Song Y, Liu Y, Guo X, Mitochondrial HSF1 triggers mitochondrial dysfunction and neurodegeneration in Huntington's disease EMBO molecular medicine14:e15851 2022 |
| PubMed ID: 35670111 |
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| Chan KY, Li X, Ortega J, Gu L, Li GM, DNA polymerase ? promotes CAG•CTG repeat expansions in Huntington's disease via insertion sequences of its catalytic domain The Journal of biological chemistry297:101144 2021 |
| PubMed ID: 34473992 |
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| 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 |
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| Dabrowska M, Olejniczak M, Gene Therapy for Huntington's Disease Using Targeted Endonucleases Methods in molecular biology (Clifton, NJ)2056:269-284 2019 |
| PubMed ID: 31586354 |
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| 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 genetics2056:269-284 2019 |
| PubMed ID: 31875875 |
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| Kotowska-Zimmer A, Ostrovska Y, Olejniczak M, Universal RNAi Triggers for the Specific Inhibition of Mutant Huntingtin, Atrophin-1, Ataxin-3, and Ataxin-7 Expression Molecular therapy Nucleic acids19:562-571 2019 |
| PubMed ID: 31927329 |
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| Zhao Y, Sun X, Hu D, Prosdocimo DA, Hoppel C, Jain MK, Ramachandran R, Qi X, ATAD3A oligomerization causes neurodegeneration by coupling mitochondrial fragmentation and bioenergetics defects Nature communications10:1371 2019 |
| PubMed ID: 30914652 |
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| de Mezer M, Wojciechowska M, Napierala M, Sobczak K, Krzyzosiak WJ, Mutant CAG repeats of Huntingtin transcript fold into hairpins, form nuclear foci and are targets for RNA interference Nucleic acids research39:3852-63 2011 |
| PubMed ID: 21247881 |
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| Fiszer A, Mykowska A, Krzyzosiak WJ, Inhibition of mutant huntingtin expression by RNA duplex targeting expanded CAG repeats Nucleic acids research39:5578-85 2011 |
| PubMed ID: 21427085 |
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| Wong, Sodium-independent glutamic acid binding in cultured fibroblasts from patients with Huntington's disease. Neurochem Int6:245 (1984):5578-85 1984 |
| PubMed ID: 21427085 |
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| Gusella JF, Wexler NS, Conneally PM, Naylor SL, Anderson MA, Tanzi RE, Watkins PC, Ottina K, Wallace MR, Sakaguchi AY, et al, A polymorphic DNA marker genetically linked to Huntington's disease. Nature306:234-8 1983 |
| PubMed ID: 6316146 |
| Passage Frozen |
4 |
| 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 |
| Supplement |
- |
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