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NA03665 DNA from Fibroblast

Description:

FRIEDREICH ATAXIA 1; FRDA

Affected:

Yes

Sex:

Female

Age:

13 YR (At Sampling)

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

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
Quantity 0.050mg
Quantitation Method Please see our FAQ
Cell Type Fibroblast
Transformant Untransformed
Sample Source DNA from Fibroblast
Race White
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Clinically affected; limb and gait ataxia; scoliosis; proprioceptive sensory loss;negative family history; passage 10 at CCR

Characterizations

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PDL at Freeze 4.66
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis
 

Phenotypic Data

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Remarks Clinically affected; limb and gait ataxia; scoliosis; proprioceptive sensory loss;negative family history; passage 10 at CCR

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
 
Napierala JS, Rajapakshe K, Clark A, Chen YY, Huang S, Mesaros C, Xu P, Blair IA, Hauser LA, Farmer J, Lynch DR, Edwards DP, Coarfa C, Napierala M, Reverse phase protein array reveals correlation of retinoic acid metabolism with cardiomyopathy in Friedreich's ataxia Molecular & cellular proteomics : MCP24:100094 2021
PubMed ID: 33991687
 
Cotticelli MG, Forestieri R, Xia S, Joyasawal S, Lee T, Xu K, Smith Iii AB, Huryn DM, Wilson RB, Identification of a Novel Oleic Acid Analog with Protective Effects in Multiple Cellular Models of Friedreich Ataxia ACS chemical neuroscience24:100094 2020
PubMed ID: 32786299
 
Rodden LN, Chutake YK, Gilliam K, Lam C, Soragni E, Hauser L, Gilliam M, Wiley G, Anderson MP, Gottesfeld JM, Lynch DR, Bidichandani SI, Methylated and unmethylated epialleles support variegated epigenetic silencing in Friedreich ataxia Human molecular genetics29:3818-3829 2020
PubMed ID: 33432325
 
Cotticelli MG, Xia S, Kaur A, Lin D, Wang Y, Ruff E, Tobias JW, Wilson RB, Identification of p38 MAPK as a novel therapeutic target for Friedreich's ataxia Scientific reports8:5007 2017
PubMed ID: 29568068
 
Napierala JS, Li Y, Lu Y, Lin K, Hauser LA, Lynch DR, Napierala M, Comprehensive analysis of gene expression patterns in Friedreich's ataxia fibroblasts by RNA sequencing reveals altered levels of protein synthesis factors and solute carriers Disease models & mechanisms10:1353-1369 2017
PubMed ID: 29125828
 
Li Y, Polak U, Clark AD, Bhalla AD, Chen YY, Li J, Farmer J, Seyer L, Lynch D, Butler JS, Napierala M, Establishment and Maintenance of Primary Fibroblast Repositories for Rare Diseases-Friedreich's Ataxia Example Biopreservation and biobanking14:324-9 2016
PubMed ID: 27002638
 
Xia H, Cao Y, Dai X, Marelja Z, Zhou D, Mo R, Al-Mahdawi S, Pook MA, Leimkühler S, Rouault TA, Li K, Novel frataxin isoforms may contribute to the pathological mechanism of friedreich ataxia PloS one7:e47847 2012
PubMed ID: 23082224
 
García-Giménez JL, Gimeno A, Gonzalez-Cabo P, Dasí F, Bolinches-Amorós A, Mollá B, Palau F, Pallardó FV, Differential expression of PGC-1a and metabolic sensors suggest age-dependent induction of mitochondrial biogenesis in Friedreich ataxia fibroblasts PloS one6:e20666 2010
PubMed ID: 21687738
 
Li K, Besse EK, Ha D, Kovtunovych G, Rouault TA, Iron-dependent regulation of frataxin expression: implications for treatment of Friedreich ataxia Human molecular genetics17:2265-73 2008
PubMed ID: 18424449

External Links

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dbSNP dbSNP ID: 10684
Gene Cards FRDA
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
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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How to Order
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