Figure 2.

Germline and somatic mutation analysis cyst derived tubular epithelial cells (TECs). A, Heterozygous germline mutations in patient 6 and patient 9 present in TECs from 3 cysts result in a frameshift. B, MeD‐seq analysis of PKD1 showing read‐count scores per LpnPI site, revealing no increased DNA methylation in TECs obtained from cyst lining epithelium (promoter shown in blue). C, mRNA expression levels of PKD1 and PKD2 in TECs and iPSCs (qRT‐PCR), normalized by the average of two housekeeping genes; actin and GAPDH, error bars represent the SD. D, Somatic mutations observed by whole‐exome sequencing comparing cysts of the same patient