Establishment of an induced pluripotent stem cell line (FDEENTi002-A) from a patient with Best's disease carrying c.888C > A mutation in BEST1 gene.
Establishment of an induced pluripotent stem cell line (FDEENTi002-A) from a patient with Best's disease carrying c.888C > A mutation in BEST1 gene.
复制标题
从携带 BEST1 基因 c.888C–>–A 突变的 Best 病患者中建立诱导多能干细胞系 (FDEENTi002-A)。
DOI：
10.1016/j.scr.2019.101459
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发表时间：
2019
影响因子：
1.2
通讯作者：
Chen,Ling
中科院分区：
文献类型：
--
作者：
Bai,Xinyue;Yang,Xian-Jie;Chen,Ling
Best病（BD）是由BEST 1基因突变引起的遗传性视网膜变性疾病。用仙台病毒无整合法从BEST 1基因c.888C > A突变的BD患者外周血单个核细胞（PBMCs）中培养了人诱导多能干细胞（iPSC）。该细胞系可作为BD发病机制研究的模型。
Best's disease (BD) is an inherited retinal degenerative disease caused by mutations inBEST1gene. A human induced pluripotent stem cell (iPSC) line has been generated with integration-free Sendai virus method from peripheral blood mononuclear cells (PBMCs) of a BD patient carrying c.888C > A mutation inBEST1gene. This cell line may serve as a model for the study of pathogenesis of BD.