Fig. 1

Experimental scheme and sample cohorts. (A) Descemet’s membrane and endothelium were collected from donor corneas (n = 3) and patients with FECD undergoing endothelial keratoplasty (n = 7). Primary CEnCs were immortalized using the simian virus-40 T-antigen cell immortalization kit and the number of repeats were estimated in CTG18.1 in the TCF4 gene of FECD cells. Cell lines from normal (SVN1-67F, SVN2-67F and SVN3-65M), FECD with repeat expansions (FECD-R; SVF1-73F, SVF5-54F, and SVF6-61M) and FECD without repeat expansions (FECD-NR; SVF2-61F, SVF3-76M, SVF4-61F, and SVF7-74F) were used for RNA sequencing followed by data analysis. (B) Table representing age, sex, passage number, and TCF4 trinucleotide CTG repeats status of normal and FECD cell lines used in this study.