CLCN7 and osteopetrosis: Moreover, the expression of Y553C in various cell lines exhibited an alteration in cell morphology, with the formation of enlarged vesicles (Polovitskaya et al., 2020) resembling those observed in transfected cells with the ClC-7 missense mutation, Y715C, which causes severe lysosomal storage and albinism without osteopetrosis in humans (Nicoli et al., 2019).