Fig. 7

Characterization of disease phenotype in diHLC-T^AATD. iHDF-T^AATD were reprogrammed to diHLC- T^AATD by incubation in HMM media containing 250 ng/ml DOX for 12 days. A Sequence of retrotranscribed SERPINA1 mRNA isolated from diHLC-T^AATD corresponding to the region of exon 6 containing the Glu366Lys mutation (PiZZ genotype). B Representative fluorescence images of cells immunostained with antibodies against polymeric and standard human alpha-1 antitrypsin in diHLC-T and diHLC-T^AATD. Nuclei were stained with DAPI. White bar equals 75 μm. C AAT secretion was estimated from 24-h cell media using an ELISA kit. Data correspond to the average of three different clones per genotype plus standard deviation. D mRNA level of four differentially expressed genes based on results previously published [42]. Values depicted correspond to the average of three different diHLC-T clones with WT and PiZZ genotype. All values correspond to average plus standard deviation