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HM06926 High Molecular Weight DNA from B-Lymphocyte

Description:

SPINOCEREBELLAR ATAXIA 1; SCA1
ATAXIN 1; ATX1

Affected:

Yes

Sex:

Male

Age:

29 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Disorders of the Nervous System
Class Disorders with Trinucleotide Expansions
Estimated Quantity 5 µg - 20 µg
Product Specifications Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source High Molecular Weight DNA from B-Lymphocyte
Race White
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
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

Characterizations

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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
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 
GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227.
 
GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227.
 
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.
 
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.

Phenotypic Data

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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

Publications

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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
 
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
 
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
 
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
 
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
 
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
 
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
 
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
 
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

External Links

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dbSNP dbSNP ID: 10921
Gene Cards ATX1
ATXN1
Gene Ontology GO:0003723 RNA binding
GO:0005634 nucleus
GO:0005737 cytoplasm
NCBI Gene Gene ID:6310
NCBI GTR 164400 SPINOCEREBELLAR ATAXIA 1; SCA1
601556 ATAXIN 1; ATXN1
OMIM 164400 SPINOCEREBELLAR ATAXIA 1; SCA1
601556 ATAXIN 1; ATXN1
Omim Description MENZEL TYPE OPCA
  OLIVOPONTOCEREBELLAR ATROPHY I; OPCA1
  OPCA I
  SPINOCEREBELLAR ATAXIA 1; SCA1
  SPINOCEREBELLAR ATROPHY I
Pricing
International/Commercial/For-profit:
$453.00USD
U.S. Academic/Non-profit/Government:
$272.00USD
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