• 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
Richard A. Mulivor, Sharon F. Suchy;
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
Yan-Jie Li, Urszula Polak, Amanda D. Clark, Angela D. Bhalla, Yu-Yun Chen, Ji-Xue Li, Jennifer Farmer, Lauren Seyer, David R. Lynch, Jill S. Butler, Marek Napierala;
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
Mittal J. Jasoliya, Marissa Z. McMackin, Chelsea K. Henderson, Susan L. Perlman, Gino A. Cortopassi;
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
Jill Sergesketter Napierala, Yan-Jie Li, Yue Lu, Kevin Lin, Lauren A. Hauser, David R. Lynch, Marek Napierala;
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)