Description:
SPINOCEREBELLAR ATAXIA 1; SCA1
ATAXIN 1; ATX1
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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 |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227. |
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| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227. |
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| Gene |
ATXN1 |
| Chromosomal Location |
6p13 |
| Allelic Variant 1 |
601556.0001; SPINAL CEREBELLAR ATAXIA 1; SCA1 |
| Identified Mutation |
(CAG)n EXPANSION; The cause of spinal cerebellar ataxia 1 (SCA1; 164400) is an expansion of a (CAG)n repeat in the gene encoding ataxin-1 located on 6p (Orr et al., 1993; Banfi et al., 1994). Most unexpanded alleles have an interrupted repeat configuration, whereas a contiguous repeat (CAG)n is found in expanded alleles. The repeat instability in SCA1 is probably more complex than a simple variation in repeat number; the loss of an interruption predisposes the SCA1 (CAG)n repeat to expansion.
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| Gene |
ATXN1 |
| Chromosomal Location |
6p13 |
| Allelic Variant 1 |
601556.0001; SPINAL CEREBELLAR ATAXIA 1; SCA1 |
| Identified Mutation |
(CAG)n EXPANSION; The cause of spinal cerebellar ataxia 1 (SCA1; 164400) is an expansion of a (CAG)n repeat in the gene encoding ataxin-1 located on 6p (Orr et al., 1993; Banfi et al., 1994). Most unexpanded alleles have an interrupted repeat configuration, whereas a contiguous repeat (CAG)n is found in expanded alleles. The repeat instability in SCA1 is probably more complex than a simple variation in repeat number; the loss of an interruption predisposes the SCA1 (CAG)n repeat to expansion.
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| Remarks |
Olivopontocerebellar atrophy type 1; spinocerebellar ataxia; 6 affected generations; see GM06927 Fibroblast; analysis of ATXN1 (ATX1) alleles showed normal allele with 29 CAG repeats and expanded allele with 52 repeats |
| Caballero M, Ge T, Rebelo AR, Seo S, Kim S, Brooks K, Zuccaro M, Kanagaraj R, Vershkov D, Kim D, Smogorzewska A, Smolka M, Benvenisty N, West SC, Egli D, Mace EM, Koren A, Comprehensive analysis of DNA replication timing across 184 cell lines suggests a role for MCM10 in replication timing regulation Human molecular genetics: 2021 |
| PubMed ID: 35394024 |
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| Lian M, Limwongse C, Yoon CS, Lee CG, Law HY, Chong SS, Single-Tube Screen for Rapid Detection of Repeat Expansions in Seven Common Spinocerebellar Ataxias Clinical chemistry68:794-802 2021 |
| PubMed ID: 35262663 |
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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 Society68:794-802 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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| Gutowska-Ding MW, Deans ZC, Roos C, Matilainen J, Khawaja F, Brügger K, Ahn JW, Boustred C, Patton SJ, One byte at a time: evidencing the quality of clinical service next-generation sequencing for germline and somatic variants European journal of human genetics : EJHG23:565-576 2019 |
| PubMed ID: 31570784 |
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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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| 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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| Jackson JF, Currier RD, Terasaki PI, Morton NE, Spinocerebellar ataxia and HLA linkage: risk prediction by HLA typing. N Engl J Med296:1138-41 1977 |
| PubMed ID: 857157 |
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| Currier RD, Glover G, Jackson JF, Tipton AC, Spinocerebellar ataxia: study of a large kindred. I. General information and genetics. Neurology22:1040-3 1972 |
| PubMed ID: 4673259 |
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