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

Xiaoling Guo; Rengcheng Qian; Liang Yang; Huihui Chen; Yinjuan Ding; Xiaoou Shan; Congde Chen; Wenfei Ni; Jian Lin; Maoping Chu

doi:10.1016/j.scr.2021.102281

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 Res. 2021 May:53:102281. doi: 10.1016/j.scr.2021.102281. Epub 2021 Mar 26.

Authors

Xiaoling Guo¹, Rengcheng Qian², Liang Yang³, Huihui Chen², Yinjuan Ding⁴, Xiaoou Shan², Congde Chen², Wenfei Ni⁵, Jian Lin³, Maoping Chu⁶

Affiliations

¹ Center of Scientific Research, the Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China; Department of Pediatrics, the Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, China. Electronic address: guoxling@hotmail.com.
² Department of Pediatrics, the Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, China.
³ Department of Neurosurgery, the Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, China.
⁴ Center of Scientific Research, the Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China.
⁵ Department of Orthopaedic Surgery, the Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China.
⁶ Department of Pediatrics, the Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, China. Electronic address: chmping@hotmail.com.

PMID: 33901818
DOI: 10.1016/j.scr.2021.102281

Abstract

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).

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Child
Fibrosarcoma*
Heterozygote
Humans
Induced Pluripotent Stem Cells*
Male
Mutation / genetics
Noonan Syndrome* / genetics