Figure 1

Characterization of the integrity of the WA17 cell line model of DS. (A) Total DNA extracted from A9 and WA17 cells was subjected to PCR analysis using human-specific primers for D21S212, USP25, RUNX1, Mir155 and mouse Krt19 primers as described in Materials and Methods. (B) Ultra high resolution array CGH hybridisation of the WA17 against A9 genomic DNA to the ultra high resolution NimbleGen HG18 chromosome 21 specific 385K arrays show the presence of the full length of HSA21 with no cryptic deletions or duplications. A 50× averaging window was also calculated, resulting in 3500 bp segments for this array. The lack of copy number rearrangements of the mouse genome between the WA17 and their parental control A9 cell lines was verified using MM8 WG CGH Whole Genome Tiling Arrays. Data were visualized in SignalMap V1.9 software (Roche NimbleGen, Wisconsin, USA). Averaging windows were used for breakpoint determination. (C) The total cell lysates of HEK 293, A9 and WA17 cells were immunoblotted with an anti-SOD1 polyclonal antibody. The mouse SOD1 (Mouse) and human SOD1 (Human) are indicated by arrows.