Cell line was derived from single, 14-year old male donor. Cystinosis is a genetic, lysosomal storage disease characterized by the abnormal accumulation of cystine. Mutuations in the CTNS gene that codes for cystinosin, a lysosomal membrane-specific transporter for cystine. Accumulation of free cystine in lysosome eventually leads to intracellular crystal formations throughout the body.