Lowe syndrome: mechanism & therapeutic opportunities
4: iPSCs & Organoids: New disease models
iPSCs from normal and patient fibroblasts were prepared as described in Materials and methods. Cell and colony morphology differences were evident using bright-field microscopy, expression of the iPSC marker Tra-1-60 was investigated using direct immunofluorescence of live fibroblasts and iPSCs (see text for details). Scale bar: 100μm.
Kidney organoid produced by iPSC generation from patient fibroblasts and further differentiation as kidney cells. Glomerular marker WT1 (green) is spatially segregated from tubular marker ECAD (red). Nuclei are shown in blue (DAPI).
Hsieh WC, Ramadesikan S, Fekete D, Aguilar RC. Kidney-differentiated cells derived from Lowe Syndrome patient's iPSCs show ciliogenesis defects and Six2 retention at the Golgi complex. PLoS One. 2018 Feb 14;13(2):e0192635. doi: 10.1371/journal.pone.0192635.
