Chunk #8 — Results — Reprogramming of 9p24.1-Carrier HFs Yields Isogenic Carrier and Non-carrier hiPSCs; 9p24.1-Carrier hiPSCs Show Variable Mosaicism in All Lines
We analyzed hiPSCs from both the proband (DL3363) and mother (DL5459) for the percentage presence of the mar element. Although presumably clonal in origin, 9p24.1-positive hiPSCs possessed varying levels (10%–60%) of the mar element, typically below the rate detected in the source HFs (Figure 2E and Table S2). There was no noticeable difference in hiPSC morphology between isogenic high mar (60%), low mar (10%), and non-carrier (no mar) hiPSCs (0%) (Figures 2A and 2F).
