Description:
HUNTINGTON DISEASE; HD
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Venezuelan Huntington Disease
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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47
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Relation to Proband
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maternal 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 |
4.03 |
| Passage Frozen |
1 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| Remarks |
Code 414; clinically affected; onset at age 41 yrs; last examined on 3/23/81; affected sibs are GM06444Z, 05555Z, 04819, & 04727; see GM04694 Lymphoid. Investigators ordering this cell line may, after receiving the culture, tender a request in writing for the available CAG repeat data for this individual. |
| Gharaba S, Sprecher U, Baransi A, Muchtar N, Weil M, Characterization of fission and fusion mitochondrial dynamics in HD fibroblasts according to patient's severity status Neurobiology of disease201:106667 2024 |
| PubMed ID: 39284371 |
| |
| 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 |
| |
| 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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| Fu Z, Liu F, Liu C, Jin B, Jiang Y, Tang M, Qi X, Guo X, Mutant huntingtin inhibits the mitochondrial unfolded protein response by impairing ABCB10 mRNA stability Biochimica et biophysica acta Molecular basis of disease10:1371 2018 |
| PubMed ID: 30802639 |
| |
| Wexler NS, Lorimer J, Porter J, Gomez F, Moskowitz C, Shackell E, Marder K, Penchaszadeh G, Roberts SA, Gayan J, Brocklebank D, Cherny SS, Cardon LR, Gray J, Dlouhy SR, Wiktorski S, Hodes ME, Conneally PM, Penney JB, Gusella J, Cha JH, Irizarry M, Rosas D, Hersch S, Hollingsworth Z, MacDonald M, Young AB, Andresen JM, Housman DE, De Young MM, Bonilla E, Stillings T, Negrette A, Snodgrass SR, Martinez-Jaurrieta MD, Ramos-Arroyo MA, Bickham J, Ramos JS, Marshall F, Shoulson I, Rey GJ, Feigin A, Arnheim N, Acevedo-Cruz A, Acosta L, Alvir J, Fischbeck K, Thompson LM, Young A, Dure L, O'Brien CJ, Paulsen J, Brickman A, Krch D, Peery S, Hogarth P, Higgins DS Jr, Landwehrmeyer B; U.S.-Venezuela Collaborative Research Project, Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset. Proc Natl Acad Sci U S A101(10):3498-503 2004 |
| PubMed ID: 14993615 |
| Cumulative PDL at Freeze |
14.14 |
| Passage Frozen |
1 |
| Split Ratio |
1:3 |
| 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 |
| Supplement |
- |
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