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

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

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 bialleli...

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Main Authors: Vincent Gatinois, Romain Desprat, Fabienne Becker, Lydiane Pichard, Florence Bernex, Bertrand Isidor, Franck Pellestor, Jean-Marc Lemaitre
Format: Article
Language:English
Published: Elsevier 2020-03-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506119303265
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spelling doaj-e3dfc48402d5436c898e5adbcdadb7ca2020-11-25T01:23:41ZengElsevierStem Cell Research1873-50612020-03-0143iPSC line derived from a Bloom syndrome patient retains an increased disease-specific sister-chromatid exchange activity.Vincent Gatinois0Romain Desprat1Fabienne Becker2Lydiane Pichard3Florence Bernex4Bertrand Isidor5Franck Pellestor6Jean-Marc Lemaitre7IRMB, 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, FranceIRMB, Univ Montpellier, INSERM, CHU Montpellier, Montpellier France; SAFE-iPSC Facility INGESTEM, CHU de Montpellier, Montpellier, France; Department of Medical Genetics, CHU Nantes, Nantes, FranceIRMB, Univ Montpellier, INSERM, CHU Montpellier, Montpellier France; SAFE-iPSC Facility INGESTEM, CHU de Montpellier, Montpellier, France; Department of Medical Genetics, CHU Nantes, Nantes, FranceIRMB, 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, FranceLaboratory 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, FranceNetwork of Experimental Histology, Univ Montpellier, BioCampus, CNRS, UMS3426, Montpellier, France; Department of Medical Genetics, CHU Nantes, Nantes, FranceIRMB, 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; Corresponding authors.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; Corresponding authors.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.http://www.sciencedirect.com/science/article/pii/S1873506119303265
collection DOAJ
language English
format Article
sources DOAJ
author Vincent Gatinois
Romain Desprat
Fabienne Becker
Lydiane Pichard
Florence Bernex
Bertrand Isidor
Franck Pellestor
Jean-Marc Lemaitre
spellingShingle Vincent Gatinois
Romain Desprat
Fabienne Becker
Lydiane Pichard
Florence Bernex
Bertrand Isidor
Franck Pellestor
Jean-Marc Lemaitre
iPSC line derived from a Bloom syndrome patient retains an increased disease-specific sister-chromatid exchange activity.
Stem Cell Research
author_facet Vincent Gatinois
Romain Desprat
Fabienne Becker
Lydiane Pichard
Florence Bernex
Bertrand Isidor
Franck Pellestor
Jean-Marc Lemaitre
author_sort Vincent Gatinois
title iPSC line derived from a Bloom syndrome patient retains an increased disease-specific sister-chromatid exchange activity.
title_short iPSC line derived from a Bloom syndrome patient retains an increased disease-specific sister-chromatid exchange activity.
title_full iPSC line derived from a Bloom syndrome patient retains an increased disease-specific sister-chromatid exchange activity.
title_fullStr iPSC line derived from a Bloom syndrome patient retains an increased disease-specific sister-chromatid exchange activity.
title_full_unstemmed iPSC line derived from a Bloom syndrome patient retains an increased disease-specific sister-chromatid exchange activity.
title_sort ipsc line derived from a bloom syndrome patient retains an increased disease-specific sister-chromatid exchange activity.
publisher Elsevier
series Stem Cell Research
issn 1873-5061
publishDate 2020-03-01
description 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.
url http://www.sciencedirect.com/science/article/pii/S1873506119303265
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