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


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

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