Table 3.
Disease | Reference | Cell Type | Gene | Sequenced | Patients | Phenotype |
---|---|---|---|---|---|---|
ADPKD | Freedman et al26 | iPSC | PKD1 | Yes | 3 | Reduced ciliary PC2 |
Thatava et al70 | iPSC | PKD1 | No | 1 | Not determined | |
Xia et al29 | iPSC | N.D. | No | 1 | Not determined | |
Autosomal-recessive PKD | Freedman et al26 | iPSC | PKHD1 | Yes | 2 | Not determined |
Systemic lupus erythematosus | Thatava et al70 | iPSC | N.D. | No | 1 | Not determined |
Chen et al72 | iPSC | N.D. | No | 4 | Not determined | |
Wilms tumor | Thatava et al70 | iPSC | N.D. | No | 1 | Not determined |
Alport syndrome | Frumkin et al71 | ESC | COL4A5 | No | 2 | Not determined |
Fabry disease | Tropel et al73 | ESC | GLA | Yes | 1 | Not determined |
N.D. = Not determined.