Reduced ciliary polycystin-2 in induced pluripotent stem cells from polycystic kidney disease patients with PKD1 mutations
BS Freedman, AQ Lam, JL Sundsbak… - Journal of the …, 2013 - journals.lww.com
Heterozygous mutations in PKD1 or PKD2, which encode polycystin-1 (PC1) and polycystin-
2 (PC2), respectively, cause autosomal dominant PKD (ADPKD), whereas mutations in
PKHD1, which encodes fibrocystin/polyductin (FPC), cause autosomal recessive PKD
(ARPKD). However, the relationship between these proteins and the pathogenesis of PKD
remains unclear. To model PKD in human cells, we established induced pluripotent stem
(iPS) cell lines from fibroblasts of three ADPKD and two ARPKD patients. Genetic …
2 (PC2), respectively, cause autosomal dominant PKD (ADPKD), whereas mutations in
PKHD1, which encodes fibrocystin/polyductin (FPC), cause autosomal recessive PKD
(ARPKD). However, the relationship between these proteins and the pathogenesis of PKD
remains unclear. To model PKD in human cells, we established induced pluripotent stem
(iPS) cell lines from fibroblasts of three ADPKD and two ARPKD patients. Genetic …