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iPSC Research and Banking

 

Induced pluripotent stem cells (iPSCs) are derived from adult somatic cells (skin fibroblast, keratinocytes, or blood cells) that have been reprogrammed back to a pluripotent ES-like state. iPSC are generated by forced expression of 4 transcriptional factors (Oct4, Sox2, Klf4, and c-myc) into somatic cells and enable the development of an unlimited source of any type of human cell (Takahashi et al., 2007).

The discovery of iPS cells as a break-through technology, opened up the potential for biomedical applications such as personalised medicine, disease modelling, cell transplantation therapy, and efficacy and toxicity testing of new molecules.

 

In our laboratory, we use the iPSCs approach for the study of human inherited cardiac and nervous disorders, with a specific focus on cardiomyopathies (such as the arrythmogenic right ventricular cardiomyopathy, ARVC) and familial epilepsy and Parkinson's disease.

The lab is equipped with state-of-the art technologies for cell and molecular biology, as well as cell imaging. Moreover, we have access to the genomics core facility located within the same building, in which Illumina and Ion Torrent platforms are available for whole genome analysis.

 

The induced pluripotent stem cell banking initiative has been established in 2014. Our laboratory is designed as facility for human iPS cells generation and storage from both disease and normal background donors with appropriate consent, to address the increased demand for quality-controlled patient-specific pluripotent cell lines to be used for our university and others for research and for human diseases studies, clinical trials, and for the development of new treatments for many disorders.

The iPSC lines can be replicated and stored (after quality tests and characterization) as pluripotent stem cells or, eventually, can be differentiated into specific cell types. We are closely operating together with clinicians that have access to samples from patients with inherited genetic diseases as a source for pluripotent stem cells generation in the context of patient-specific genetic background.

Our facility connects together genomics, proteomics, cell biology and clinical genetics to create a network for iPS cell characterization for human model disease studies.

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