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Generation of human induced pluripotent stem cell (SKLRMi001-A) from a patient with partial androgen insensitivity syndrome (PAIS).
Stem Cell Research ( IF 0.8 ) Pub Date : 2020-05-31 , DOI: 10.1016/j.scr.2020.101863
Junqing Chen 1 , Xiaoyu Yang 2 , Bifei Fu 1 , Pinmou Zhu 1 , Yunfei Zhu 1 , Xuejiang Guo 1 , Jiahao Sha 1 , Yan Yuan 1
Affiliation  

Androgen receptor (AR) is essential for maintaining normal spermatogenesis and male fertility, and its mutation can cause complete or partial androgen insensitivity syndrome (CAIS or PAIS) in patients. We established an induced pluripotent stem cell line (SKLRMi001-A) from a PAIS patient with AR mutation (c.2710G > A; p. V904M). The iPSC line expressed pluripotency markers, retained normal karyotype, carried the mutation, showed capability of differentiating into three germ layers and was absence of mycoplasma infection. The iPSC line will help to further elucidate the pathogenic mechanisms of AR mutation, and benefit treatment for PAIS in the future.



中文翻译:

患有部分雄激素不敏感综合征(PAIS)的患者产生人诱导的多能干细胞(SKLRMi001-A)。

雄激素受体(AR)对于维持正常的精子发生和男性生育至关重要,其突变可导致患者完全或部分雄激素不敏感综合征(CAIS或PAIS)。我们从患有AR突变(c.2710G> A; p。V904M)的PAIS患者中建立了诱导多能干细胞系(SKLRMi001-A)。iPSC系表达多能性标记,保留正常的核型,携带突变,显示出分化为三个胚层的能力,并且没有支原体感染。iPSC系列将有助于进一步阐明AR突变的发病机制,并在将来有益于PAIS的治疗。

更新日期:2020-05-31
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