Reprogramming of Human Peripheral Blood Mononuclear Cell (PBMC) from a patient suffering of a Werner syndrome resulting in iPSC line (REGUi003-A) maintaining a short telomere length

• Published in: Stem cell research Vol. 39; p. 101515
• Main Authors: Gatinois, Vincent, Desprat, Romain, Becker, Fabienne, Pichard, Lydiane, Bernex, Florence, Corsini, Carole, Pellestor, Franck, Lemaitre, Jean-Marc
• Format: Journal Article
• Language: English
• Published: England Elsevier B.V 01.08.2019; Elsevier
• Subjects: Cells, Cultured; Flow Cytometry; Fluorescent Antibody Technique; Genetic Predisposition to Disease - genetics; Human health and pathology; Humans; Induced Pluripotent Stem Cells - cytology; Karyotyping; Leukocytes, Mononuclear - cytology; Leukocytes, Mononuclear - metabolism; Life Sciences; Microsatellite Repeats - genetics; Telomere - genetics; Werner Syndrome - genetics
• ISSN: 1873-5061; 1876-7753; 1876-7753
• DOI: 10.1016/j.scr.2019.101515

Werner syndrome (WS) is a rare human autosomal recessive disorder characterized by early onset of aging-associated diseases, chromosomal instability, and cancer predisposition, without therapeutic treatment solution. Major clinical symptoms of WS include common age-associated diseases, such as insulin-resistant diabetes mellitus, and atherosclerosis. WRN, the gene responsible for the disease, encodes a RECQL-type DNA helicase with a role in telomere metabolism. We derived a stable iPSC line from 53 years old patient's PBMC, with a normal karyotype, but exhibiting a short telomere length, as a major aspect of the cellular phenotype involved in the pathology.