Article
Generation of a human embryonic stem cell line (SMUDHe010-A-82) carrying a homozygous c.1538G > A (p.G513D) mutation in the OSMR gene by CRISPR/Cas9-mediated homologous recombination.
Stem cell research - 1 Aug 2022
Zheng Wen, Zhong Yadan, Yuan Liyan, Yu Xiaoling, Wang Xuan, Yang Chao, Liu Huiting, Lv Ping, Luo Yingying, Qiu Biying, Liu Jun, Yang Bin
Abstract excerpt
Mutations in the tumor suppressor M receptor (OSMR) gene are associated with primary localized cutaneous amyloidosis (PLCA). Recently, we confirmed that OSMR loss-of-function mutations enhance epidermal keratinocyte differentiation via inactivation of the STAT5/KLF7 signaling. However, no disease model was available for PLCA. Accordingly, we generated an OSMR c.1538G > A mutant human embryonic stem cell line...
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