NA05539
DNA from Fibroblast
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 |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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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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Sample Source
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DNA from Fibroblast
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Race
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White
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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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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 |
| Passage Frozen |
7 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
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| Remarks |
Clinically affected; onset at age 2 yrs; father is affected; see GM05538 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. |
| Wilbertz JH, Frappier J, Muller S, Gratzer S, Englaro W, Stanek LM, Calamini B, Time-resolved FRET screening identifies small molecular modifiers of mutant Huntingtin conformational inflexibility in patient-derived cells SLAS discovery : advancing life sciences R & D: 2022 |
| PubMed ID: 35058188 |
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| 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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| 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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| Khaled HG, Feng H, Hu X, Sun X, Zheng W, Li PP, Rudnicki DD, Ye W, Chen YC, Southall N, Marugan J, Ross CA, Ferrer M, Henderson MJ, Margolis RL, A high-throughput screening to identify small molecules that suppress huntingtin promoter activity or activate huntingtin-antisense promoter activity Scientific reports11:6157 2020 |
| PubMed ID: 33731741 |
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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 genetics11:6157 2019 |
| PubMed ID: 31875875 |
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| Rafehi H, Szmulewicz DJ, Bennett MF, Sobreira NLM, Pope K, Smith KR, Gillies G, Diakumis P, Dolzhenko E, Eberle MA, Barcina MG, Breen DP, Chancellor AM, Cremer PD, Delatycki MB, Fogel BL, Hackett A, Halmagyi GM, Kapetanovic S, Lang A, Mossman S, Mu W, Patrikios P, Perlman SL, Rosemergy I, Storey E, Watson SRD, Wilson MA, Zee DS, Valle D, Amor DJ, Bahlo M, Lockhart PJ, Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS American journal of human genetics105:151-165 2019 |
| PubMed ID: 31230722 |
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| Zhao M, Cheah FSH, Tan ASC, Lian M, Phang GP, Agarwal A, Chong SS, Robust Preimplantation Genetic Testing of Huntington Disease by Combined Triplet-Primed PCR Analysis of the HTT CAG Repeat and Multi-Microsatellite Haplotyping Scientific reports9:16481 2019 |
| PubMed ID: 31712634 |
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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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| Tankard RM, Bennett MF, Degorski P, Delatycki MB, Lockhart PJ, Bahlo M, Detecting Expansions of Tandem Repeats in Cohorts Sequenced with Short-Read Sequencing Data American journal of human genetics10:1371 2017 |
| PubMed ID: 30503517 |
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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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| Liu Y, Xue Y, Ridley S, Zhang D, Rezvani K, Fu XD, Wang H, Direct reprogramming of Huntington's disease patient fibroblasts into neuron-like cells leads to abnormal neurite outgrowth, increased cell death, and aggregate formation PloS one9:e109621 2014 |
| PubMed ID: 25275533 |
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