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...
Main Authors: | Xiaoling Guo, Rengcheng Qian, Liang Yang, Huihui Chen, Yinjuan Ding, Xiaoou Shan, Congde Chen, Wenfei Ni, Jian Lin, Maoping Chu |
---|---|
Format: | Article |
Language: | English |
Published: |
Elsevier
2021-05-01
|
Series: | Stem Cell Research |
Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506121001276 |
Similar Items
-
Establishment of a human induced pluripotent stem cell line (WMUi031-A) from a Lowe syndrome patient carrying a OCRL gene mutation (c.2626dupA)
by: Rengchen Qian, et al.
Published: (2021-05-01) -
Generation of a human induced pluripotent stem cell line (WMUi021-A) from a Gitelman syndrome patient carrying a SLC12A3 gene mutation (c.179C > T)
by: Xiaoling Guo, et al.
Published: (2021-05-01) -
NOONAN SYNDROME AS RESULT OF MUTATION p. S257L OF GENE RAF1: CLINICAL CASE AND REVIEW
by: A. A. Bukaeva, et al.
Published: (2016-10-01) -
Establishment of an induced pluripotent stem cell line (WMUi016-A) from a patient with X-linked Dent disease (X-Dent) carrying the hemizygote mutation p.R718* (c.2152C > T) in the CLCN5 gene
by: Huihui Chen, et al.
Published: (2021-03-01) -
The protective roles of allicin on type 1 diabetes mellitus through AMPK/mTOR mediated autophagy pathway
by: Rengcheng Qian, et al.
Published: (2023-02-01)