Figure 1. Generation and characterization of FTD/ALS patient-specific iPSC lines with the TDP-43 A90V mutation.

(A) Sequencing of genomic DNA from patient fibroblasts confirmed the presence of the missense TDP43 A90V (c.269 C>T) mutation. (B) Schematic representation of the steps from the collection of patient fibroblasts to the derivation of postmitotic neurons. Fibroblasts, iPSCs and neurons were immunostained with TDP-43, NANOG and TUJ1 antibodies, respectively. (C) Quantitative RT-PCR analysis of the levels of total and endogenous expression of OCT4, CMYC, SOX2, and KLF4 in iPSC and H9 ESC lines. Values were normalized to GAPDH levels. (D) No chromosomal abnormalities were found in any of the selected iPSC lines. The karyotypes of control line 37L20 and patient line 36L10 are shown.