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


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

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