Generation of an induced pluripotent stem cell line (IUFi001) from a Cockayne syndrome patient carrying a mutation in the ERCC6 gene

Generation of an induced pluripotent stem cell line (IUFi001) from a Cockayne syndrome patient carrying a mutation in the ERCC6 gene

Human fibroblasts from a Cockayne Syndrome (CS) patient carrying the compound heterozygous c.1131 A > T and c.2571C > T within ERCC Excision Repair 6 (ERCC6) were reprogramed to generate integration-free induced pluripotent stem cells (iPSCs). Characterization of IUFi001-iPSCs demonstrated tha...

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Main Authors: Soraia Martins, Inken Hacheney, Nadine Teichweyde, Barbara Hildebrandt, Jean Krutmann, Andrea Rossi
Format: Article
Language:English
Published: Elsevier 2021-08-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506121003032
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spelling doaj-d6c39fb645754cc58e9f630930b98a182021-09-11T04:28:15ZengElsevierStem Cell Research1873-50612021-08-0155102456Generation of an induced pluripotent stem cell line (IUFi001) from a Cockayne syndrome patient carrying a mutation in the ERCC6 geneSoraia Martins0Inken Hacheney1Nadine Teichweyde2Barbara Hildebrandt3Jean Krutmann4Andrea Rossi5IUF-Leibniz Research Institute for Environmental Medicine, Duesseldorf, GermanyIUF-Leibniz Research Institute for Environmental Medicine, Duesseldorf, GermanyIUF-Leibniz Research Institute for Environmental Medicine, Duesseldorf, GermanyInstitute of Human Genetics, Medical Faculty, Heinrich-Heine-University Düsseldorf, Düsseldorf, GermanyIUF-Leibniz Research Institute for Environmental Medicine, Duesseldorf, GermanyIUF-Leibniz Research Institute for Environmental Medicine, Duesseldorf, Germany; Corresponding author.Human fibroblasts from a Cockayne Syndrome (CS) patient carrying the compound heterozygous c.1131 A > T and c.2571C > T within ERCC Excision Repair 6 (ERCC6) were reprogramed to generate integration-free induced pluripotent stem cells (iPSCs). Characterization of IUFi001-iPSCs demonstrated that this iPSC line is free of exogenous reprogrammed genes and maintains the genomic integrity. The pluripotency of IUFi001-iPSCs was confirmed by the expression of the pluripotency-associated markers and by embryoid body-based differentiation into cell types representative of the three germ layers. The generated iPSC line provides a powerful tool to dissect the molecular mechanisms underlying CS caused by mutations within ERCC6.http://www.sciencedirect.com/science/article/pii/S1873506121003032
collection DOAJ
language English
format Article
sources DOAJ
author Soraia Martins
Inken Hacheney
Nadine Teichweyde
Barbara Hildebrandt
Jean Krutmann
Andrea Rossi
spellingShingle Soraia Martins
Inken Hacheney
Nadine Teichweyde
Barbara Hildebrandt
Jean Krutmann
Andrea Rossi
Generation of an induced pluripotent stem cell line (IUFi001) from a Cockayne syndrome patient carrying a mutation in the ERCC6 gene
Stem Cell Research
author_facet Soraia Martins
Inken Hacheney
Nadine Teichweyde
Barbara Hildebrandt
Jean Krutmann
Andrea Rossi
author_sort Soraia Martins
title Generation of an induced pluripotent stem cell line (IUFi001) from a Cockayne syndrome patient carrying a mutation in the ERCC6 gene
title_short Generation of an induced pluripotent stem cell line (IUFi001) from a Cockayne syndrome patient carrying a mutation in the ERCC6 gene
title_full Generation of an induced pluripotent stem cell line (IUFi001) from a Cockayne syndrome patient carrying a mutation in the ERCC6 gene
title_fullStr Generation of an induced pluripotent stem cell line (IUFi001) from a Cockayne syndrome patient carrying a mutation in the ERCC6 gene
title_full_unstemmed Generation of an induced pluripotent stem cell line (IUFi001) from a Cockayne syndrome patient carrying a mutation in the ERCC6 gene
title_sort generation of an induced pluripotent stem cell line (iufi001) from a cockayne syndrome patient carrying a mutation in the ercc6 gene
publisher Elsevier
series Stem Cell Research
issn 1873-5061
publishDate 2021-08-01
description Human fibroblasts from a Cockayne Syndrome (CS) patient carrying the compound heterozygous c.1131 A > T and c.2571C > T within ERCC Excision Repair 6 (ERCC6) were reprogramed to generate integration-free induced pluripotent stem cells (iPSCs). Characterization of IUFi001-iPSCs demonstrated that this iPSC line is free of exogenous reprogrammed genes and maintains the genomic integrity. The pluripotency of IUFi001-iPSCs was confirmed by the expression of the pluripotency-associated markers and by embryoid body-based differentiation into cell types representative of the three germ layers. The generated iPSC line provides a powerful tool to dissect the molecular mechanisms underlying CS caused by mutations within ERCC6.
url http://www.sciencedirect.com/science/article/pii/S1873506121003032
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