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Generation and characterization of three isogenic induced pluripotent stem cell lines from a patient with Bardet-Biedl syndrome and homozygous for the BBS5 variant.
Stem Cell Research ( IF 1.2 ) Pub Date : 2019-11-04 , DOI: 10.1016/j.scr.2019.101594
Caroline Amalie Brunbjerg Hey 1 , Lasse Jonsgaard Larsen 1 , Zeynep Tümer 2 , Karen Brøndum-Nielsen 1 , Karen Grønskov 1 , Tina Duelund Hjortshøj 1 , Lisbeth Birk Møller 1
Affiliation  

Bardet-Biedl syndrome (BBS), an autosomal recessive disease, is associated with non-functional primary cilia. BBS5 is part of the protein complex termed the BBSome. The BBSome associates with intra flagellar transport (IFT) particles and mediates trafficking of membrane proteins in the cilium, a process important for cilia-mediated signal transduction. Here we describe the generation of three induced pluripotent stem cell (iPSC) lines, KCi003-A, KCi003-B and KCi003-C from a patient with BBS and homozygous for the disease causing variant c.214G>A, p.(Gly72Ser) in BBS5. The iPSC lines can be used for investigation of IFT in different cell types differentiated from the iPSC line.



中文翻译:

来自Bardet-Biedl综合征和BBS5变异纯合子的患者的三种等基因诱导的多能干细胞系的生成和表征。

Bardet-Biedl综合征(BBS)是一种常染色体隐性遗传疾病,与无功能的原发性纤毛相关。BBS5是称为BBSome的蛋白质复合物的一部分。BBSome与鞭毛内运输(IFT)颗粒相关联,并介导纤毛中膜蛋白的运输,这对纤毛介导的信号转导很重要。在这里,我们描述了来自BBS且纯合子的三种诱导多能干细胞(iPSC)系KCi003-A,KCi003-B和KCi003-C的产生,该疾病引起变体c.214G> A,p。(Gly72Ser)在BBS5中。iPSC系可用于研究与iPSC系不同的不同细胞类型中的IFT。

更新日期:2019-11-04
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