Publications

WDR45 encodes WIPI-4, a β-propeller scaffold protein involved in autophagy regulation. Pathogenic variants in WDR45 lead to β-propeller protein-associated neurodegeneration (BPAN), a form of neurodegeneration with brain iron accumulation (NBIA). Through an integration-free reprogramming approach,...

Limb-girdle muscular dystrophy R2 (LGMD R2) is an autosomal recessive disorder caused by dysferlin deficiency, leading to progressive muscle weakness and wasting. The lack of reliable clinical biomarkers has limited disease monitoring and therapeutic evaluation. Here, we identified Disabled-2 (DA...

Cystic Fibrosis (CF) is an autosomal recessive disease caused by mutations in the CFTR gene. Patients carrying the most common mutation, p.F508del, benefit from the triple therapy Kaftrio®. We genome-edited the commercially available iPSC line PCIi033-A (wild-type CFTR) to generate the subclone P...

Danon disease (DD) is a rare, X-linked dominant autophagic vacuolar myopathy caused by deficiency of lysosomal-associated membrane protein 2 (LAMP2) and is characterized by cardiomyopathy, skeletal myopathy, and intellectual disability. However, the underlying mechanisms remain unclear. In this s...

Extracellular vesicles (EVs) are key mediators of maternal-foetal communication, regulating placental function and foetal development through the transfer of bioactive molecules. Although placental EVs play a crucial role in placental function during pregnancy, their contribution to foetal develo...

The successful translation of a stem cell-derived product from the laboratory into an approved medicine requires specific scientific, technical, and regulatory understanding. Since this knowledge base is fragmented across websites and publications, the ISSCR has developed a new resource, The Best...