• Mutation; HGNC; HGNC:2625; CYP2D6; Simple; p.Arg296Cys (c.886C>T); ClinVar=VCV000242771; Zygosity=Heterozygous; Note=CYP2D6*2 allele (from autologous cell line GM07521).
  
• Mutation; HGNC; HGNC:2625; CYP2D6; Simple; p.Ser486Thr (c.1457G>C); ClinVar=VCV000242701; Zygosity=Heterozygous; Note=CYP2D6*2 allele (from autologous cell line GM07521).
  

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=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)

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A comprehensive transcriptome analysis identifies FXN and BDNF as novel targets of miRNAs in Friedreich's ataxia patients.
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Skin fibroblast metabolomic profiling reveals that lipid dysfunction predicts the severity of Friedreich's ataxia.
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