NA13716
DNA from Fibroblast
Description:
DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA
DRPLA GENE; DRPLA
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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 |
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 |
4.01 |
| Passage Frozen |
7 |
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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 |
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. |
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| 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. |
| Remarks |
Hyperactivity & short attention span at age 7; at age 8 showed developmental & cognitive regression; significantly demented at age 12; recurrent generalized tonic-clonic seizures; DRPLA CAG expansion repeat alleles are 16 and 68 |
| Ciesiolka A, Stroynowska-Czerwinska A, Joachimiak P, Ciolak A, Kozlowska E, Michalak M, Dabrowska M, Olejniczak M, Raczynska KD, Zielinska D, Wozna-Wysocka M, Krzyzosiak WJ, Fiszer A, Artificial miRNAs targeting CAG repeat expansion in ORFs cause rapid deadenylation and translation inhibition of mutant transcripts Cellular and molecular life sciences : CMLS: 2019 |
| PubMed ID: 32696070 |
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| Ciolak A, Krzyzosiak WJ, Kozlowska E, Fiszer A, Generation of human iPS cell line IBCHi002-A from spinocerebellar ataxia type 3/Machado-Joseph disease patient's fibroblasts Stem cell research45:101796 2019 |
| PubMed ID: 32361312 |
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| Kozlowska E, Ciolak A, Olejniczak M, Fiszer A, Generation of human iPS cell line IBCHi001-A from dentatorubral-pallidoluysian atrophy patient's fibroblasts Stem cell research39:101512 2019 |
| PubMed ID: 31374462 |
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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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| 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 |
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| 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 |
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