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Chunk #6 — RESULTS — Generation and characterization of iPSC lines from fibroblasts of FAD patients with PSEN1 mutations

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Early pathogenic event of Alzheimer's disease documented in iPSCs from patients with PSEN1 mutations.
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The differentiation capacity of the established AD- and N-iPSCs was examined through embryoid bodies (EBs) (Supplementary Figure 1h and 1i) and teratoma formation assays (Supplementary Figure 1j and 1k). Moreover, karyotype analysis showed that both A16-iPSCs and A15-iPSCs bore a karyotype of 46,XX (Supplementary Figure 1l), however all the A15-iPSCs carried a translocation between chromosome 1 and 9,t(1;9)(p32;q11). The short tandem repeat analysis verified the distinct identity of iPSC lines established in this study (Supplementary Table 1). Altogether, our results indicated that the iPSCs generated in this study behaved as typical human pluripotent stem cells with potential to differentiate into cell types of all three germ layers both in vitro and in vivo, without detectable differences in the developmental potential between AD- and N-iPSCs