Genetic Biobank of Siena


Az. Osp. Univ. Senese / University of Siena
Alessandra Renieri
The Biobank started its activity in 1998, focusing on X-linked Intellectual disability (XL-ID), and specifically on Rett syndrome (RTT). Subsequently, the biobank extended the collection to samples from other genetic diseases maintained in the Medical Genetics Unit, among which the largest contribution is represented by Alport syndrome (ATS) and Retinoblastoma (RB). In addition to these main collections, the Biobank collects samples from a large number of other genetic diseases, both with and without genetic diagnosis. Different biological samples are stored: DNA, RNA, leukocytes, lymphoblastoid cell lines, primary fibroblasts, whole blood, plasma, induced Pluripotent Stem Cells (iPSCs). For all collected diseases, the biobank offers services of sample manipulation (RNA/DNA extraction, isolation and EBV-transformation of leukocytes from peripheral blood samples, establishment of fibroblast cultures from skin biopsy, Plasma isolation), storage and distribution.