Table 1. Genotype and cystine content of cell linesa

Cell LinePhenotypeGenotypeCystine Content (nmol cystine/mg protein)
a The cystine content was measured by a cystine binding protein assay as described in Materials and Methods. RPTE, renal proximal tubule epithelial cells.
GM00008Nephropathic46XX, 65-kb del7.5
GM00760Nephropathic46XY, 753 G→A, premature stop0.78
GM00046Nephropathic46XY, 5-bp del, frameshift1.51
GM08761Ocular46XX, not determined6.29
GM00379IntermediateIVS11+2 T→C15.7
753 G→A (W138X)
GM00010Normal46XY, apparently normal< 0.01
GM05399Normal46XY, apparently normal< 0.01
RPTENormal46XY, apparently normal0.6