Figure 1
From: Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium
Schematic summary of the study and nomenclature of genetic aberrations. (A) Culturing and QC steps. Step 1: genetic fingerprinting and conventional karyotyping. Step 2: high-resolution CMA. Step 3: exome sequencing. (B) Graph showing the age distribution (x-axis) and phenotype of all donors. Fibroblast cultures are plotted as symbols (white = unrelated individuals; blue, red, green = related individuals) on the grey timeline (male = square; female = circle). The three-letter codes in these symbols represent each individual’s donor IDs (see also Fig. S1C). The passage of the derived RiPSC (above) and SiPSC (below) cultures are plotted as circles connected to the respective fibroblast (y-axis; scattered for visualization). Derived NPCs are connected to the RiPSC they originated from. Red bars below the fibroblast symbols mark individuals with PBLs available selected for exome sequencing. See also File S1 for additional information. (C) Standardized nomenclature for variants/aberrations depending on the cell they arose in. The scheme compares the evolutionary history of a cancer cell (box “selection”) which is subject to a strong selective pressure with that of a cultured cell (box “genetic drift”) which is mainly subject to random genetic drift.
