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...

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Published inStem cell research Vol. 45; p. 101807
Main Authors Gatinois, Vincent, Desprat, Romain, Pichard, Lydiane, Becker, Fabienne, Goldenberg, Alice, Balguerie, Xavier, Pellestor, Franck, Lemaitre, Jean-Marc
Format Journal Article
LanguageEnglish
Published England Elsevier B.V 01.05.2020
Elsevier
Subjects
Cellular Biology
Dermatology
Fibroblasts
Human health and pathology
Humans
Induced Pluripotent Stem Cells
Life Sciences
Mutation
Rothmund-Thomson Syndrome
Skin Abnormalities
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ISSN1873-5061
1876-7753
1876-7753
DOI10.1016/j.scr.2020.101807

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Summary: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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ISSN:1873-5061
1876-7753
1876-7753
DOI:10.1016/j.scr.2020.101807