Generation of a human induced pluripotent stem cell line, BRCi005-A, derived from a Best disease patient with BEST1 mutations
Generation of a human induced pluripotent stem cell line, BRCi005-A, derived from a Best disease patient with BEST1 mutations
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产生人类诱导多能干细胞系 BRCi005-A，源自具有 BEST1 突变的 Best 疾病患者
DOI：
10.1016/j.scr.2020.101782
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发表时间：
2020
影响因子：
1.2
通讯作者：
Inoue Haruhisa
中科院分区：
文献类型：
--
作者：
Kamata Kazuma;Otsuka Yuki;Imamura Keiko;Oishi Akio;Kondo Takayuki;Suga Mika;Shibukawa Ran;Okanishi Yasue;Sagara Yukako;Tsukita Kayko;Yasukawa Tsutomu;Usui Hideaki;Muguruma Keiko;Tsujikawa Akitaka;Inoue Haruhisa
最佳疾病是一种遗传性视网膜营养不良，导致进行性和不可逆的中心视力丧失所造成的突变BEST1（BEST1）。我们从一名BEST 1基因突变为R218 H和A357 V的Best病患者中建立了人诱导多能干细胞（iPSC）。诱导的诱导多能干细胞在体外具有多能性标记和三胚层分化能力。基因分析揭示了iPSC中的R218H和A357V突变。该iPSC系将有助于阐明Best疾病的病理机制和药物发现。
Best Disease is an inherited retinal dystrophy that results in progressive and irreversible central vision loss caused by mutations of BESTROPHIN1 (BEST1). We established human induced pluripotent stem cells (iPSCs) from a Best disease patient with mutations R218H and A357V in theBEST1gene. The generated iPSCs showed pluripotency markers and three-germ layer differentiation abilityin vitro. A genetic analysis revealed mutations of R218H and A357V in the iPSCs. This iPSC line will be useful for elucidating the pathomechanisms of and drug discovery for Best disease.