Publications

Cystic fibrosis is a recessive genetic disease due to mutations in the CFTR gene. Approximately 80% of patients carry the CFTR-F508del mutation and may benefit from the triple therapy Kaftrio®. However, patients with other rare mutations that prevent the production of the CFTR protein, such as no...

CFTR gene mutations are responsible for Cystic Fibrosis. For half a decade, a triple therapy has been available for patients carrying the most frequent mutation: p.F508del. Among classified mutations, intronic mutations are rare, and no therapeutic strategies have yet been developed for such pati...

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...

Glycogen storage disease type II (GSDII), or Pompe disease, is a rare autosomal recessive metabolic disorder characterized by the deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). GAA deficiency results in the progressive accumulation of glycogen in cardiac and skeletal muscle tiss...

CACNA1S gene variants are associated with congenital myopathies (CMyo) with triad dysfunction (triadopathies), malignant hyperthermia susceptibility, hypokalemic periodic paralysis and thyrotoxic periodic paralysis. Here, we generated three iPSC lines derived from patients with CMyo linked to bot...