FIGURE 1.

Expression of pTracer constructs with MCCB wild type cDNA and both types of mutant cDNA of patient MCC019 (G352R and exon10a) in an immortalized MCCB-deficient reference fibroblast cell line. Untransfected control and patient MCC019 fibroblasts were also analyzed. Transfections were performed by electroporation, and cells were harvested 48 h later for the assay of MCC and PCC activities as well as Western blot analysis of MCCB using β-actin as a control. Transfection with the empty vector (vector only) was used as a negative control. Values are the mean of parallel determinations from a representative experiment. For further details, see “Experimental Procedures.” Median control values and range (in brackets) for MCC and PCC activities in 30 different immortalized fibroblast cell lines are: MCC, 399 pmol/min/mg protein (220–683); and PCC, 660 (309–840).