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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

Abstract : 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.
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Soumis le : mercredi 11 mars 2020 - 16:33:43
Dernière modification le : vendredi 13 mars 2020 - 01:44:18

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Vincent Gatinois, Romain Desprat, Fabienne Becker, Lydiane Pichard, Florence Bernex, et al.. 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. Stem cell research, Elsevier, 2019, 39, pp.101515. ⟨10.1016/j.scr.2019.101515⟩. ⟨hal-02505693⟩

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