Establishment of an induced pluripotent stem cell line from a Noonan syndrome patient with the heterozygote mutation p.S257L (c.770C > T) in RAF1 gene
Summary
Noonan Syndrome (NS) is an inherited autosome dominant disorder syndrome, which can be caused by the mutations of serine/threonine kinase rapidly accelerated fibrosarcoma 1 (RAF1) gene. Here, an induced pluripotent stem cell (iPSC) line named WMUi022-A derived from urine cells (UCs) of a 9-year-old male NS patient with the heterozygote RAF1 gene mutation p.S257L (c.770C > T) was established through the commercial Sendai virus reprogramming kit. The pluripotent markers like OCT4 and SOX2 can be expressed positively in WMUi022-A, which can be induced into three germ layers in vitro as well as maintain a normal karyotype (46, XY). Copyright © 2021 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Guo X, Qian R, Yang L, Chen H, Ding Y, Shan X, Chen C, Ni W, Lin J, Chu M |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2021 May;53:102281 |
| PubMed | 33901818 |
| DOI | 10.1016/j.scr.2021.102281 |