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GM15851 LCL from B-Lymphocyte

Description:

FRIEDREICH ATAXIA 1; FRDA

Affected:

No

Sex:

Male

Age:

14 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
Alternate IDs GM18078 [FRIEDREICH ATAXIA 1; FRDA]
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Race White
Family Member 3
Relation to Proband brother
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Clinically unaffected;has two FRDA alleles in the normal range of GAA trinucleotide repeats;brother of an affected individual (GM15850).

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
 

Phenotypic Data

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Remarks Clinically unaffected;has two FRDA alleles in the normal range of GAA trinucleotide repeats;brother of an affected individual (GM15850).

Publications

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Jama M, Margraf RL, Yu P, Reading NS, Bayrak-Toydemir P, A Comprehensive Triple-Repeat Primed PCR and a Long-Range PCR Agarose-Based Assay for Improved Genotyping of Guanine-Adenine-Adenine Repeats in Friedreich Ataxia The Journal of molecular diagnostics : JMD24:915-923 2021
PubMed ID: 35595154
 
Doni D, Rigoni G, Palumbo E, Baschiera E, Peruzzo R, De Rosa E, Caicci F, Passerini L, Bettio D, Russo A, Szabò I, Soriano ME, Salviati L, Costantini P, The displacement of frataxin from the mitochondrial cristae correlates with abnormal respiratory supercomplexes formation and bioenergetic defects in cells of Friedreich ataxia patients FASEB journal : official publication of the Federation of American Societies for Experimental Biology35:e21362 2020
PubMed ID: 33629768
 
Georges P, Boza-Moran MG, Gide J, Pêche GA, Forêt B, Bayot A, Rustin P, Peschanski M, Martinat C, Aubry L, Induced pluripotent stem cells-derived neurons from patients with Friedreich ataxia exhibit differential sensitivity to resveratrol and nicotinamide Scientific reports9:14568 2019
PubMed ID: 31601825
 
Omar M.Khdour Indrajit Bandyopadhyay Sandipan Roy Chowdhury Nishant P.Visavadiya Sidney M. Hecht, Lipophilic methylene blue analogues enhance mitochondrial function and increase frataxin levels in a cellular model of Friedreich’s ataxia Bioorganic & Medicinal Chemistry26:3359-3369 2018
PubMed ID: 29773347
 
Silva AM, Brown JM, Buckle VJ, Wade-Martins R, Lufino MM, Expanded GAA repeats impair FXN gene expression and reposition the FXN locus to the nuclear lamina in single cells Human molecular genetics24:3457-71 2015
PubMed ID: 25814655
 
Lufino MM, Silva AM, Németh AH, Alegre-Abarrategui J, Russell AJ, Wade-Martins R, A GAA repeat expansion reporter model of Friedreich's ataxia recapitulates the genomic context and allows rapid screening of therapeutic compounds Human molecular genetics22:5173-87 2013
PubMed ID: 23943791
 
Goldschmidt R, Arce PM, Khdour OM, Collin VC, Dey S, Jaruvangsanti J, Fash DM, Hecht SM, Effects of cytoprotective antioxidants on lymphocytes from representative mitochondrial neurodegenerative diseases Bioorganic & medicinal chemistry21:969-78 2012
PubMed ID: 23313093
 
Guccini I, Serio D, Condò I, Rufini A, Tomassini B, Mangiola A, Maira G, Anile C, Fina D, Pallone F, Mongiardi MP, Levi A, Ventura N, Testi R, Malisan F, Frataxin participates to the hypoxia-induced response in tumors Cell death & disease2:e123 2011
PubMed ID: 21368894
 
Haefeli RH, Erb M, Gemperli AC, Robay D, Courdier Fruh I, Anklin C, Dallmann R, Gueven N, NQO1-dependent redox cycling of idebenone: effects on cellular redox potential and energy levels PloS one6:e17963 2010
PubMed ID: 21483849
 
Punga, T. and Buhler, M., Long intronic GAA repeats causing Friedreich ataxia impede transcription elongation EMBO Mol Med2:120-129 2010
PubMed ID: 20373285
 
Burnett R, Melander C, Puckett JW, Son LS, Wells RD, Dervan PB, Gottesfeld JM, DNA sequence-specific polyamides alleviate transcription inhibition associated with long GAATTC repeats in Friedreich's ataxia Proceedings of the National Academy of Sciences of the United States of America103:11497-502 2006
PubMed ID: 16857735
 
Condò I, Ventura N, Malisan F, Tomassini B, Testi R, A pool of extramitochondrial frataxin that promotes cell survival The Journal of biological chemistry281:16750-6 2006
PubMed ID: 16608849

External Links

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dbSNP dbSNP ID: 12300
Gene Cards FRDA
GEO GEO Accession No: GSM1054026
GEO Accession No: GSM113678
GEO Accession No: GSM113802
GEO Accession No: GSM113803
GEO Accession No: GSM113804
GEO Accession No: GSM113805
GEO Accession No: GSM113806
GEO Accession No: GSM113807
GEO Accession No: GSM113808
GEO Accession No: GSM113809
GEO Accession No: GSM113810
GEO Accession No: GSM113811
GEO Accession No: GSM113812
GEO Accession No: GSM282204
GEO Accession No: GSM282205
GEO Accession No: GSM282226
GEO Accession No: GSM282227
NCBI GTR 229300 FRIEDREICH ATAXIA; FRDA
OMIM 229300 FRIEDREICH ATAXIA; FRDA
Omim Description FAFRIEDREICH ATAXIA WITH RETAINED REFLEXES, INCLUDED; FARR, INCLUDED
  FRATAXIN, INCLUDED
  FRDA1
  FRIEDREICH ATAXIA 1; FRDA
  X25, INCLUDED

Culture Protocols

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Split Ratio 1:6
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
Medium Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not Inactivated
Substrate None specified
Subcultivation Method dilution - add fresh medium
Supplement -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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