Generation of a human induced pluripotent stem cells (MUi015-A) from skin fibroblast of retinoblastoma patient with 13q deletion syndrome

The 13q deletion syndrome is a rare chromosomal disorder caused by loss of the long arm of chromosome 13, and usually entails developmental delay, intellectual disability, behavioral problems and distinctive facial features. In this study, we successfully generated a human iPSC line (MUi015-A) from...

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Bibliographic Details
Main Authors: Amornrat Tangprasittipap, Sukanya Chumchuen, Gunn Pornratananont, Narisorn Kitiyanant, Suradej Hongeng
Other Authors: Faculty of Medicine Ramathibodi Hospital, Mahidol University
Format: Article
Published: 2022
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Online Access:https://repository.li.mahidol.ac.th/handle/123456789/76234
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Institution: Mahidol University
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Summary:The 13q deletion syndrome is a rare chromosomal disorder caused by loss of the long arm of chromosome 13, and usually entails developmental delay, intellectual disability, behavioral problems and distinctive facial features. In this study, we successfully generated a human iPSC line (MUi015-A) from skin fibroblasts of a patient who had large deletion of chromosome 13, del(13)(q14q22). The MUi015-A line exhibited embryonic stem cell characteristics with consistent pluripotency marker expression and the capability of differentiating into three germ layers. The cell line provides a good tool in studying pathophysiology of the tumors, drug testing and gene therapy.