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 |
6.25 |
| Passage Frozen |
11 |
| |
| 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 66 and 16 on this subject's lymphoblast line (GM13515) |
| 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 |
| |
| Al-Choboq J, Ferlazzo ML, Sonzogni L, Granzotto A, El-Nachef L, Maalouf M, Berthel E, Foray N, Usher Syndrome Belongs to the Genetic Diseases Associated with Radiosensitivity: Influence of the ATM Protein Kinase International journal of molecular sciences23: 2022 |
| PubMed ID: 35163494 |
| |
| 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 |
| |
| 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 |
| |
| Al-Ramahi I, Panapakkam Giridharan SS, Chen YC, Patnaik S, Safren N, Hasegawa J, de Haro M, Wagner Gee AK, Titus SA, Jeong H, Clarke J, Krainc D, Zheng W, Irvine RF, Barmada S, Ferrer M, Southall N, Weisman LS, Botas J, Marugan JJ, Inhibition of PIP4K? ameliorates the pathological effects of mutant huntingtin protein eLife6:4146 2017 |
| PubMed ID: 29256861 |
| |
| Al-Ramahi I, Panapakkam Giridharan SS, Chen YC, Patnaik S, Safren N, Hasegawa J, de Haro M, Wagner Gee AK, Titus SA, Jeong H, Clarke J, Krainc D, Zheng W, Irvine RF, Barmada S, Ferrer M, Southall N, Weisman LS, Botas J, Marugan JJ, Inhibition of PIP4K? ameliorates the pathological effects of mutant huntingtin protein eLife6:4146 2017 |
| PubMed ID: 29936182 |
| Passage Frozen |
11 |
| Split Ratio |
1:2 |
| 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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