İpek Baysal, Samiye Yabanoglu-Ciftci, Emirhan Nemutlu, Cemil Can Eylem, Elif Damla Gök-Topak, Kezban Ulubayram, Sedef Kır, Bora Gulhan, Gülberk Uçar, Fatih Ozaltin, Rezan Topaloglu
Cystinosis is an autosomal recessive disease caused by mutations in the CTNS gene encoding a protein called cystinosine, which is a lysosomal cystine transporter. Disease causing mutations lead accumulation of cystine crystals in the lysosomes and thereby causing dysfunction of vital organs. Determination of the increased leukocyte cystine level is one of the most used methods for diagnosis. However, this method is expensive, difficult to perform, and may yield different results in different laboratories. In this study, a disease model was created with CTNS gene-silenced HK2 cells, which can mimic cystinosis in cell culture, and multi-omics methods (i...
November 8, 2023: Laboratory Investigation; a Journal of Technical Methods and Pathology