• Mutation; HGNC; 3951; FXN; Repeat_expansion; IVS1 GAA[341]; ClinVar=VCV000561195; Zygosity=Heterozygous (PubMed=27002638; PubMed=29125828).
  
• Mutation; HGNC; 3951; FXN; Repeat_expansion; IVS1 GAA[480]; ClinVar=VCV000561195; Zygosity=Heterozygous (PubMed=27002638; PubMed=29125828).
  

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992)

PubMed=27002638; DOI=10.1089/bio.2015.0117
Li Y.-J., Polak U., Clark A.D., Bhalla A.D., Chen Y.-Y., Li J.-X., Farmer J., Seyer L., Lynch D.R., Butler J.S., Napierala M.
Establishment and maintenance of primary fibroblast repositories for rare diseases -- Friedreich's ataxia example.
Biopreserv. Biobank. 14:324-329(2016)

PubMed=28444186; DOI=10.1093/hmg/ddx141
Jasoliya M.J., McMackin M.Z., Henderson C.K., Perlman S.L., Cortopassi G.A.
Frataxin deficiency impairs mitochondrial biogenesis in cells, mice and humans.
Hum. Mol. Genet. 26:2627-2633(2017)

PubMed=29125828; DOI=10.1242/dmm.030536
Napierala J.S., Li Y.-J., Lu Y., Lin K., Hauser L.A., Lynch D.R., 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.
Dis. Model. Mech. 10:1353-1369(2017)