Available Technology

Human Renal Epithelial Tubular Cells for Studies of Cystinosis

Cystinosis is a rare lysosomal storage disease, affecting about 500 people (mostly children) in the United States and about 2000 people worldwide. It is an autosomal recessive disorder, wherein patients have a defect in the CTNS gene, which codes for the lysosomal cystine transporter. In this disorder, cystine (an amino acid) is not properly transported out of the lysosome and accumulates in the cells, forming damaging crystals. As a result, cystinosis slowly destroys various organs in the body, including kidneys, liver, muscles, eyes, and brain. Currently, the only treatment for cystinosis is cysteamine, a drug that reduces intracellular cystine levels, although this treatment requires frequent dosing. Available from NHGRI are human renal epithelial tubular cells isolated from cystinosis patient samples. These cells may be useful for studying the biology of cystinosis, as well as the metabolic role of the lysosomal cystine transporter; they may also be useful for the development of screening assays for potential therapeutic agents for cystinosis.
Patent Abstract: 
Cystinosis is a rare lysosomal storage disease, affecting about 500 people (mostly children) in the United States and about 2000 people worldwide. It is an autosomal recessive disorder, wherein patients have a defect in the CTNS gene, which codes for the lysosomal cystine transporter. In this disorder, cystine (an amino acid) is not properly transported out of the lysosome and accumulates in the cells, forming damaging crystals. As a result, cystinosis slowly destroys various organs in the body, including kidneys, liver, muscles, eyes, and brain. Currently, the only treatment for cystinosis is cysteamine, a drug that reduces intracellular cystine levels, although this treatment requires frequent dosing. Available from NHGRI are human renal epithelial tubular cells isolated from cystinosis patient samples. These cells may be useful for studying the biology of cystinosis, as well as the metabolic role of the lysosomal cystine transporter; they may also be useful for the development of screening assays for potential therapeutic agents for cystinosis.
Benefits 
These cell lines were derived from cystinosis patient samples, and studies performed using these cells are expected to correlate well to the initiation, progression and treatment of cystinosis in patients.
applications 
Inventors: 
William Gahl
Internal Laboratory Ref #: 
E-204-2012/0
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