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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4
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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 |
7.15 |
| Passage Frozen |
2 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| Remarks |
At risk (50%); mother had HD; proband is GM04017 Lymphoid; see GM04023 Lymphoid |
| Seo JH, Shin JH, Lee J, Kim D, Hwang HY, Nam BG, Lee J, Kim HH, Cho SR, DNA double-strand break-free CRISPR interference delays Huntington's disease progression in mice Communications biology6:466 2022 |
| PubMed ID: 37117485 |
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| Evers MM, Schut MH, Pepers BA, Atalar M, van Belzen MJ, Faull RL, Roos RA, van Roon-Mom WM, Making (anti-) sense out of huntingtin levels in Huntington disease Molecular neurodegeneration10:21 2014 |
| PubMed ID: 25928884 |
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| Skotte NH, Southwell AL, Østergaard ME, Carroll JB, Warby SC, Doty CN, Petoukhov E, Vaid K, Kordasiewicz H, Watt AT, Freier SM, Hung G, Seth PP, Bennett CF, Swayze EE, Hayden MR, Allele-specific suppression of mutant huntingtin using antisense oligonucleotides: providing a therapeutic option for all Huntington disease patients PloS one9:e107434 2014 |
| PubMed ID: 25207939 |
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| Evers MM, Pepers BA, van Deutekom JC, Mulders SA, den Dunnen JT, Aartsma-Rus A, van Ommen GJ, van Roon-Mom WM, Targeting several CAG expansion diseases by a single antisense oligonucleotide PloS one6:e24308 2011 |
| PubMed ID: 21909428 |
| Passage Frozen |
2 |
| 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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