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Stem Cell Res. 2019 Aug;39:101515. doi: 10.1016/j.scr.2019.101515. Epub 2019 Jul 27.

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.

Author information

1
Laboratory of Genome and Stem Cell Plasticity in Development and Aging, Institute for Regenerative Medicine and Biotherapy, INSERM UMR1183, Univ Montpellier, Montpellier, France; Laboratory of Cytogenetics, ChromoStem Facility, Univ Montpellier, CHU de Montpellier, Montpellier, France.
2
SAFE-iPSC Facility INGESTEM, Univ Montpellier, CHU de Montpellier, Montpellier, France.
3
Laboratory of Genome and Stem Cell Plasticity in Development and Aging, Institute for Regenerative Medicine and Biotherapy, INSERM UMR1183, Univ Montpellier, Montpellier, France; SAFE-iPSC Facility INGESTEM, Univ Montpellier, CHU de Montpellier, Montpellier, France.
4
Institut de Recherche en Cancérologie de Montpellier, Univ Montpellier, INSERM, U1194, Montpellier, France; Network of Experimental Histology, Univ Montpellier, BioCampus, CNRS, UMS3426, Montpellier, France.
5
Medical Genetics Department, Univ Montpellier, CHU de Montpellier, Montpellier, France.
6
Laboratory of Genome and Stem Cell Plasticity in Development and Aging, Institute for Regenerative Medicine and Biotherapy, INSERM UMR1183, Univ Montpellier, Montpellier, France; Laboratory of Cytogenetics, ChromoStem Facility, Univ Montpellier, CHU de Montpellier, Montpellier, France; SAFE-iPSC Facility INGESTEM, Univ Montpellier, CHU de Montpellier, Montpellier, France. Electronic address: f-pellestor@chu-montpellier.fr.
7
Laboratory of Genome and Stem Cell Plasticity in Development and Aging, Institute for Regenerative Medicine and Biotherapy, INSERM UMR1183, Univ Montpellier, Montpellier, France; SAFE-iPSC Facility INGESTEM, Univ Montpellier, CHU de Montpellier, Montpellier, France. Electronic address: jean-marc.lemaitre@inserm.fr.

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.

PMID:
31404747
DOI:
10.1016/j.scr.2019.101515
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