Description:
HUNTINGTON DISEASE; HD
HUNTINGTIN; HTT
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| 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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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Molecular characterization after cell line submission to CCR
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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 |
4.87 |
| Passage Frozen |
6 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
| |
| Gene |
HD |
| Chromosomal Location |
4p16.3 |
| Allelic Variant 1 |
143100.0001; HUNTINGTON DISEASE |
| Identified Mutation |
(CAG)n EXPANSION; Huntington disease is caused by expansion of a polymorphic trinucleotide repeat (CAG)n located in the coding region of the gene for huntingtin. The range of repeat numbers is 9 to 37 in normal individuals and 37 to 86 in HD patients. |
| Remarks |
Clinically affected; expanded CAG repeat HD alleles were reported as 70 and 15 on this subject's matching lymphoblast line (GM13509) |
| So Jung Park, Sung Min Son, Antonio Daniel Barbosa , Lidia Wrobel, Eleanna Stamatakou, Ferdinando Squitieri, Gabriel Balmus, David C Rubinsztein, Nuclear proteasomes buffer cytoplasmic proteins during autophagy compromise Nature Cell Biology: 2024 |
| PubMed ID: 39209961 |
| |
| 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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| 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 |
| |
| 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 |
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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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| Krzyszton-Russjan J, Chudziak J, Bednarek M, Anuszewska EL, Development of New PCR Assay with SYBR Green I for Detection of Diagnostics (Basel, Switzerland)11:101144 2021 |
| PubMed ID: 34068904 |
| |
| Wrobel L, Hill SM, Djajadikerta A, Fernandez-Estevez M, Karabiyik C, Ashkenazi A, Barratt VJ, Stamatakou E, Gunnarsson A, Rasmusson T, Miele EW, Beaton N, Bruderer R, Feng Y, Reiter L, Castaldi MP, Jarvis R, Tan K, Bürli RW, Rubinsztein DC, Compounds activating VCP D1 ATPase enhance both autophagic and proteasomal neurotoxic protein clearance Nature communications13:4146 2021 |
| PubMed ID: 35842429 |
| |
| 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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| 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 |
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| Siddiqui A, Rivera-Sánchez S, Castro MD, Acevedo-Torres K, Rane A, Torres-Ramos CA, Nicholls DG, Andersen JK, Ayala-Torres S, Mitochondrial DNA damage is associated with reduced mitochondrial bioenergetics in Huntington's disease Free radical biology & medicine10:1371 2011 |
| PubMed ID: 22709585 |
| Passage Frozen |
6 |
| Split Ratio |
1:2 |
| 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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