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 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. Copyright © 2021 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Tangprasittipap A, Chumchuen S, Pornratananont G, Kitiyanant N, Hongeng S
Journal Stem cell research
Publication Date 2021 Apr;52:102211
PubMed 33550139
DOI 10.1016/j.scr.2021.102211

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