• 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
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)

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Comprehensive analysis of gene expression patterns in Friedreich's ataxia fibroblasts by RNA sequencing reveals altered levels of protein synthesis factors and solute carriers.
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