An iPSC line was derived from fibroblasts of a 34-year-old female with severe microphthalmia, aniridia, cataracts, optic nerve coloboma and nystagmus, and genetically diagnosed with a heterozygous missense mutation in PAX6 c.372C>A p.(Asn124Lys) (Table 1). Here, PAX6 is linked to aniridia.