gene OCRL, which codes for an inositol polyphosphate 5-phosphatase that plays a key role
in endosome recycling, clathrin-coated pit formation, and actin polymerization. It is
characterized by congenital cataracts, intellectual and developmental disability, and renal
proximal tubular dysfunction. Patients are also at high risk for developing glaucoma and
seizures. We recently developed induced pluripotent stem cell (iPSC) lines from three …