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Generation of two hiPSC clones (MHHi019-A, MHHi019-B) from a primary ciliary dyskinesia patient carrying a homozygous deletion in the NME5 gene (c.415delA (p.Ile139Tyrfs*8)).
Stem Cell Research ( IF 0.8 ) Pub Date : 2020-09-07 , DOI: 10.1016/j.scr.2020.101988
Anais Sahabian 1 , Laura von Schlehdorn 1 , Nora Drick 2 , Isabell Pink 2 , Julia Dahlmann 1 , Alexandra Haase 1 , Gudrun Göhring 3 , Tobias Welte 2 , Ulrich Martin 1 , Felix C Ringshausen 2 , Ruth Olmer 1
Affiliation  

Primary ciliary dyskinesia (PCD) is a genetic disorder characterized by defects in motile cilia and is known to occur in about 1 in 20,000 live births (Horani and Ferkol, 2018). Among the many genes associated with PCD, NME5, a gene encoding a protein involved in ciliary function, was recently reported to be involved in PCD (Anderegg et al., 2019; Cho et al., 2020). We have established two human induced pluripotent stem cell clones from a PCD patient carrying a deletion in the NME5 gene (c.415delA (p.Ile139Tyrfs*8)).



中文翻译:

从携带NME5基因纯合缺失的原发性睫状运动障碍患者中产生两个hiPSC克隆(MHHi019-A,MHHi019-B)(c.415delA(p.Ile139Tyrfs * 8))。

原发性睫状运动障碍(PCD)是一种以运动性纤毛缺陷为特征的遗传性疾病,已知发生在每20,000例活产中约有1例发生(Horani和Ferkol,2018)。在与PCD相关的许多基因中,最近有报道称NME5是一种编码睫状功能的蛋白质的基因,参与PCD(Anderegg等,2019; Cho等,2020)。我们已经从携带NME5基因(c.415delA(p.Ile139Tyrfs * 8))的PCD患者中建立了两个人类诱导的多能干细胞克隆。

更新日期:2020-09-07
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