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Stem Cell Res. 2019 Dec 31;43:101696. doi: 10.1016/j.scr.2019.101696. [Epub ahead of print]

iPSC line derived from a Bloom syndrome patient retains an increased disease-specific sister-chromatid exchange activity.

Author information

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

Abstract

Bloom syndrome is characterized by severe pre- and postnatal growth deficiency, immune abnormalities, sensitivity to sunlight, insulin resistance, and a high risk for many cancers that occur at an early age. The diagnosis is established on characteristic clinical features and/or presence of biallelic pathogenic variants in the BLM gene. An increased frequency of sister-chromatid exchanges is also observed and can be useful to diagnose BS patients with weak or no clinical features. For the first time, we derived an induced pluripotent cell line from a Bloom syndrome patient retaining the specific sister-chromatid exchange feature as a unique tool to model the pathology.

PMID:
31918214
DOI:
10.1016/j.scr.2019.101696
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