Article
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.
Stem cell research - 1 May 2021
Guo Xiaoling, Qian Rengcheng, Yang Liang, Chen Huihui, Ding Yinjuan, Shan Xiaoou, Chen Congde, Ni Wenfei, Lin Jian, Chu Maoping
Abstract excerpt
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...
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