• Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[341]; ClinVar=VCV000561195; Zygosity=Heterozygous (PubMed=27002638; PubMed=29125828).
  
• Mutation; HGNC; 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 misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

PubMed=27002638; DOI=10.1089/bio.2015.0117; PMCID=PMC4991587
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; PMCID=PMC6251520
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; PMCID=PMC5719256
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)