FIG. 2.

Characterization of FRDA fibroblast lines. Initial characterization of the FRDA fibroblasts is conducted using approximately1.5 × 10⁶ cells cultured on three wells of a standard six-well plate. Determination of the size of GAA repeats using PCR (A). Short GAA alleles are amplified in unaffected controls (C8399, Coriell Cell Repositories), heterozygous mutation carriers, or compound heterozygotes carrying a point mutation on one FXN allele and a GAA expansion on the second allele (F4194). The two expanded alleles can be distinguished in an FRDA cell line homozygous for GAA expansions (F50). Determination of frataxin mRNA and protein expression using qRT-PCR (B) and western blot (C). FRDA, Friedreich's ataxia; qRT-PCR, real-time quantitative reverse transcription polymerase chain reaction.