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 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. Copyright © 2021 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Martins S, Hacheney I, Teichweyde N, Hildebrandt B, Krutmann J, Rossi A
Journal Stem cell research
Publication Date 2021 Aug;55:102456
PubMed 34271225
DOI 10.1016/j.scr.2021.102456

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