Description:
MACHADO-JOSEPH DISEASE; MJD
ATAXIN 3; ATXN3
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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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Ethnicity
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PORTUGUESE
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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 |
4.17 |
| Passage Frozen |
8 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
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| Gene |
ATXN3 |
| Chromosomal Location |
14q24.3-q31 |
| Allelic Variant 1 |
607047.0001; MACHADO-JOSEPH DISEASE |
| Identified Mutation |
(CAG)n EXPANSION; Machado-Joseph disease and spinocerebellar ataxia-3 are caused by expansion of a trinucleotide repeat (CAG)n in the MJD gene. In normal individuals, the gene contains between 13 and 36 repeats, whereas most patients with clinically diagnosed MJD and all of the affected members of a family with clinical and pathological MJD show expansion of the repeat number in the range of 68 to 79 copies. |
| Remarks |
Portuguese; affected father and two sibs; SCA Type III (SCA3): ataxia, nystagmus, and dysarthria; allele 1 has 24 CAG repeats in the ATXN3 (MJD) gene; allele 2 has 74 CAG repeats |
| Zhang N, Bewick B, Schultz J, Tiwari A, Krencik R, Zhang A, Adachi K, Xia G, Yun K, Sarkar P, Ashizawa T, DNAzyme Cleavage of CAG Repeat RNA in Polyglutamine Diseases Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics: 2021 |
| PubMed ID: 34160773 |
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| Laffita-Mesa JM, Nennesmo I, Paucar M, Svenningsson P, A Novel Duplication in ATXN2 as Modifier for Spinocerebellar Ataxia 3 (SCA3) and C9ORF72-ALS Movement disorders : official journal of the Movement Disorder Society: 2020 |
| PubMed ID: 33058338 |
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| Lian M, Zhao M, Phang GP, Soong YT, Yoon CS, Lee CG, Law HY, Chong SS, Rapid Molecular Screen of Spinocerebellar Ataxia Types 1, 2, and 3 by Triplet-Primed PCR and Melting Curve Analysis The Journal of molecular diagnostics : JMD23:565-576 2020 |
| PubMed ID: 33618058 |
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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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| Chen ZS1,2, Li L1,2, Peng S1,2, Chen FM3, Zhang Q1,2, An Y1,2, Lin X2, Li W2, Koon AC1,2, Chan TF2,3,4,5, Lau KF2,3,4, Ngo JCK2,3, Wong WT3, Kwan KM3,6,7, Chan HYE8,2,3,4,5., Planar cell polarity gene Fuz triggers apoptosis in neurodegenerative disease models EMBO Reports105:151-165 2018 |
| PubMed ID: 30026307 |
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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 genetics105:151-165 2017 |
| PubMed ID: 30503517 |
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| Evers MM, Tran HD, Zalachoras I, Pepers BA, Meijer OC, den Dunnen JT, van Ommen GJ, Aartsma-Rus A, van Roon-Mom WM, Ataxin-3 protein modification as a treatment strategy for spinocerebellar ataxia type 3: Removal of the CAG containing exon Neurobiology of disease105:151-165 2013 |
| PubMed ID: 23659897 |
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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 |
8 |
| 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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