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
Summary
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. Copyright © 2019 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Gatinois V, Desprat R, Becker F, Pichard L, Bernex F, Corsini C, Pellestor F, Lemaitre JM |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2019 Aug;39:101515 |
| PubMed | 31404747 |
| DOI | 10.1016/j.scr.2019.101515 |