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。