TAM-derived cells show genetic and functional diversity. (A) Summary of the serial transplantation of TAM cells of patient 1 and the results of CNA profiling and GATA1 mutation analysis. The original patient sample had a single GATA1 mutation, c.38G_39delAG, and no additional CNAs. Diverse subpopulations with or without additional CNAs expanded in each recipient. GATA1 mutation analysis showed 2 distinct mutations in recipients: one identical to that of the original patient (c.38_39delAG) and a different mutation (c.1A>G). The mice harboring cells with the original mutation (c.38_39delAG) are shown in rectangles, and the mice with cells harboring the other mutation (c.1A>G) are shown in ovals, with a CNA profile note inside. The GATA1 mutation is indicated below the symbol. NAA, no additional alteration; N/A, not assessed because of low blast cell count. ^†Death of recipient before analysis. *No engraftment. (B) Detection of a minor clone with the c.1A>G mutation in the original sample of patient 1. Ncol digestion of a DNA fragment obtained by PCR of GATA1 exon 2 yielded 2 fragments in the wild type, whereas the mutant allele (c.1A>G) remained undigested. PCR of the undigested band and direct sequence analysis identified the same GATA1 mutation (c.1A>G mutation) in the patient sample. Black arrow indicates the primer set.