They exhibited typical iPSC characteristics with a high nuclear-to-cytoplasmic ratio, expressed pluripotency markers NANOG, OCT4, SSEA4 and TRA-1 (Fig. 2c) and showed differentiation potential marked by AFP, SMA and TUJ1 (Supplementary Fig. 1c), without significant difference between BCD and WT. This evidence concerns the gene SMN1 and Bietti crystalline corneoretinal dystrophy.