NA08936
DNA from Fibroblast
Description:
MYOCLONIC EPILEPSY OF LAFORA
NHL REPEAT-CONTAINING 1 GENE; NHLRC1
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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 |
| 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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Family Member
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2
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Relation to Proband
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brother
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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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| Gene |
NHLRC1 |
| Chromosomal Location |
6p22.3 |
| Allelic Variant 1 |
P129H; PROGRESSIVE MYOCLONIC 2B |
| Identified Mutation |
PRO129HIS |
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| Gene |
NHLRC1 |
| Chromosomal Location |
6p22.3 |
| Allelic Variant 2 |
P129H; PROGRESSIVE MYOCLONIC 2B |
| Identified Mutation |
PRO129HIS |
| Remarks |
Seizure disorders at age 12; bedridden by age 17; ataxia & myoclonus; abnormal electroencephalogram with diffuse slowing & bursts of spikes & spike-waves; muscle bx in similarly aff older brother was positive for Lafora body epilepsy; donor subject is homozygous for a C>A transversion at nucleotide 386 of the NHLRC1 (EPM2B) gene (386C>A) resulting in the substitution of histidine for proline at codon 129 [Pro129His (P129H)] |
| Lahuerta M, Aguado C, Sánchez-Martín P, Sanz P, Knecht E, Degradation of altered mitochondria by autophagy is impaired in Lafora disease The FEBS journal285:2071-2090 2017 |
| PubMed ID: 29645350 |
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| Lohi H, Turnbull J, Zhao XC, Pullenayegum S, Ianzano L, Yahyaoui M, Mikati MA, Quinn NP, Franceschetti S, Zara F, Minassian BA, Genetic diagnosis in Lafora disease: genotype-phenotype correlations and diagnostic pitfalls Neurology68:996-1001 2007 |
| PubMed ID: 17389303 |
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