Establishment and characterization of induced pluripotent stem cells from patients with 22q11.2 Duplication Syndrome

Background: 22q11.2 Duplication Syndrome (22q11.2DupS), caused by microduplication of the q11.2 region on chromosome 22, is associated with a high risk of developing neurodevelopmental disorders (NDDs), including autism spectrum disorders, and attention-deficit/hyperactivity disorder. On the other hand, in individuals affected by schizophrenia, 22q11.2DupS occurs less compared to the general population, suggesting that this microduplication could have protective effect against schizophrenia. Thus, 22q11.2DupS represents an adequate model system for studying the molecular mechanisms underlying NDDs. Material and Methods: iPSCs were generated by reprogramming peripheral blood mononuclear cells using CytoTune™-iPS 2.0 Sendai Reprogramming Kit. Established iPSC lines were characterized by examining their morphology, genomic integrity, pluripotency and the ability to differentiate into cells of three germ layers. Results: iPSCs were generated from three patients with an inherited form of 22q11.2DupS, their mothers that carry the microduplication, and three healthy individuals. Genotyping showed that some of the iPSC lines have additional copy number variations. All generated iPSC lines express pluripotency markers and are capable of differentiating into the cells of three germ layers (ectoderm, mesoderm, and endoderm). Conclusion: iPSCs were successfully generated from patients with 22q11.2DupS, their carrier mothers, and healthy individuals, providing a valuable tool for gaining insights into the molecular mechanisms underlying NDDs.