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GM13717 Fibroblast

Description:

DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA
DRPLA GENE; DRPLA

Affected:

Yes

Sex:

Male

Age:

47 YR (At Sampling)

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

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
Cell Type Fibroblast
Transformant Untransformed
Race White
Family Member 2
Relation to Proband cousin
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Progressive neurodegenerative disorder; ataxia, cognitive impairment, dementia, choreiform movements, and speech difficulties; seizure disorder at age 46; DRPLA CAG expansion repeat alleles are 15 and 65

Characterizations

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Passage Frozen 6
 
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 DRPLA
Chromosomal Location 1213.31
Allelic Variant 1 607462.0001; DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY
Identified Mutation (CAG)n EXPANSION; DRPLA is caused by expansion of a trinucleotide repeat (CAG)n. The repeat size varies from 7 to 23 in normal individuals and shows an expansion to approximately 49 to 75 (and occasionally even more) in patients. As with other disorders caused by expanded trinucleotide repeats, expansion is usually associated with paternal transmission. The repeat size correlates inversely with age-of-onset of symptoms and with disease severity.

Phenotypic Data

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Remarks Progressive neurodegenerative disorder; ataxia, cognitive impairment, dementia, choreiform movements, and speech difficulties; seizure disorder at age 46; DRPLA CAG expansion repeat alleles are 15 and 65

Publications

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Yang Z, Yang X, Sun Y, Wang Y, Song L, Qiao Z, Fang Z, Wang Z, Liu L, Chen Y, Yan S, Guo X, Zhang J, Fan C, Liu F, Peng Z, Peng H, Sun J, Chen W, Test development, optimization and validation of a WGS pipeline for genetic disorders BMC medical genomics16:74 2022
PubMed ID: 37020281
 
Kotowska-Zimmer A, Ostrovska Y, Olejniczak M, Universal RNAi Triggers for the Specific Inhibition of Mutant Huntingtin, Atrophin-1, Ataxin-3, and Ataxin-7 Expression Molecular therapy Nucleic acids19:562-571 2019
PubMed ID: 31927329
 
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
 
Yamashita H, Tomoshige S, Nomura S, Ohgane K, Hashimoto Y, Ishikawa M, Application of protein knockdown strategy targeting ß-sheet structure to multiple disease-associated polyglutamine proteins Bioorganic & medicinal chemistry28:115175 2019
PubMed ID: 31767406
 
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 genetics28:115175 2017
PubMed ID: 30503517
 
de Mezer M, Wojciechowska M, Napierala M, Sobczak K, Krzyzosiak WJ, Mutant CAG repeats of Huntingtin transcript fold into hairpins, form nuclear foci and are targets for RNA interference Nucleic acids research39:3852-63 2011
PubMed ID: 21247881
 
Potter NT, Meyer MA, Zimmerman AW, Eisenstadt ML, Anderson IJ, Molecular and clinical findings in a family with dentatorubral- pallidoluysian atrophy. Ann Neurol37:273-7 1995
PubMed ID: 7847869

External Links

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dbSNP dbSNP ID: 11871
Gene Cards ATN1
DRPLA
Gene Ontology GO:0005515 protein binding
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0007417 central nervous system development
NCBI Gene Gene ID:1822
NCBI GTR 125370 DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA
607462 ATROPHIN 1; ATN1
OMIM 125370 DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA
607462 ATROPHIN 1; ATN1
Omim Description DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA
  MYOCLONUS EPILEPSY WITH CHOREOATHETOSIS
  NAITO-OYANAGI DISEASE; NODATROPHIN 1, INCLUDED

Culture Protocols

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Passage Frozen 6
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
Substrate None specified
Subcultivation Method trypsin-EDTA
Supplement -
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$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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