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Article Dans Une Revue Stem Cell Research Année : 2020

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

Résumé

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.
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hal-03576948 , version 1 (31-05-2022)

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Paternité - Pas d'utilisation commerciale - Pas de modification

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Vincent Gatinois, Romain Desprat, Lydiane Pichard, Fabienne Becker, Alice Goldenberg, et al.. iPSC reprogramming of fibroblasts from a patient with a Rothmund-Thomson syndrome RTS. Stem Cell Research, 2020, 45, pp.101807. ⟨10.1016/j.scr.2020.101807⟩. ⟨hal-03576948⟩
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