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
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
复制标题
DOI：
10.1016/j.scr.2022.102842
复制
发表时间：
2022
影响因子：
1.2
通讯作者：
Bin Yang
中科院分区：
文献类型：
--
作者：
Wen Zheng;Yadan Zhong;Liyan Yuan;Xiaoling Yu;Xuan Wang;Chao Yang;Huiting Liu;Ping Lv;Yingying Luo;Biying Qiu;Jun Liu;Bin Yang
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 (SMUDHe010-A-82) using CRISPR/Cas9-mediated homologous recombination. The cell line preserves normal karyotype, pluripotency and the ability to differentiate into all three germ layers. Moreover, the cell line can be used to prepare human skin organoid, which may provide a disease model for PLCA.
