iPSC reprogramming of fibroblasts from a patient with a Rothmund-Thomson syndrome RTS


Rothmund-Thomson Syndrome (RTS) is a rare autosomal recessive disease that manifests several clinical features of accelerated aging. These findings include atrophic skin and pigment changes, alopecia, osteopenia, cataracts, and an increased incidence of cancer for patients. Mutations in RECQL4 gene are responsible for cases of RTS. RECQL4 belongs to the RECQ DNA helicase family which has been shown to participate in many aspects of DNA metabolism. To be able to study the cellular defects related to the pathology, we derived an induced pluripotent cell line from RTS patient fibroblasts, with the ability to re-differentiate into the three embryonic germ layers. Copyright © 2020. Published by Elsevier B.V.

Authors Gatinois V, Desprat R, Pichard L, Becker F, Goldenberg A, Balguerie X, Pellestor F, Lemaitre JM
Journal Stem cell research
Publication Date 2020 May;45:101807
PubMed 32416578
DOI 10.1016/j.scr.2020.101807

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