Fig. 1

Characterization of SCP2 mutation in patient fibroblasts. A BLAST DNA sequence of amplicon-based NGS results of SCP2 in patient fibroblasts (WESP) compared to the human wild-type (WT) sequence. Green box shows A > G mutation present in half the reads (top) and WT nucleotide in half the reads (bottom). B qRT-PCR analyses of the SCPx coding region of SCP2 (left) and the SCP2 coding region of SCP2 (right), where data are normalized to GAPDH. Data are shown as mean ± SEM (n = 3). ***p < 0.001. C Western blot analyses of SCPx and SCP2 in control fibroblasts (NHDF) and WESP cells