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GM08936 Fibroblast

Description:

MYOCLONIC EPILEPSY OF LAFORA
NHL REPEAT-CONTAINING 1 GENE; NHLRC1

Affected:

Yes

Sex:

Male

Age:

16 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
Cell Type Fibroblast
Transformant Untransformed
Family Member 2
Relation to Proband brother
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
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)]

Characterizations

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Gene NHLRC1
Chromosomal Location 6p22.3
Allelic Variant 1 P129H; PROGRESSIVE MYOCLONIC 2B
Identified Mutation PRO129HIS
 
Gene NHLRC1
Chromosomal Location 6p22.3
Allelic Variant 2 P129H; PROGRESSIVE MYOCLONIC 2B
Identified Mutation PRO129HIS

Phenotypic Data

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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)]

Publications

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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
 
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

External Links

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dbSNP dbSNP ID: 14457
Gene Cards NHLRC1
NCBI Gene Gene ID:378884
NCBI GTR 254780 MYOCLONIC EPILEPSY OF LAFORA
608072 NHL REPEAT-CONTAINING PROTEIN 1; NHLRC1
OMIM 254780 MYOCLONIC EPILEPSY OF LAFORA
608072 NHL REPEAT-CONTAINING PROTEIN 1; NHLRC1
Omim Description EPILEPSY, PROGRESSIVE MYOCLONIC 2; EPM2A
  EPM2
  LAFORA DISEASELAFORIN, INCLUDED
  MYOCLONUS EPILEPSY OF LAFORA; MELF

Culture Protocols

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Split Ratio 1:2
Temperature 37 C
Percent CO2 5%
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 -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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