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))

从携带 NME5 基因纯合缺失 (c.415delA (p.Ile139Tyrfs*8)) 的原发性纤毛运动障碍患者中生成两个 hiPSC 克隆 (MHHi019-A、MHHi019-B)

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作者：Anais Sahabian, Laura von Schlehdorn, Nora Drick, Isabell Pink, Julia Dahlmann, Alexandra Haase, Gudrun Göhring, Tobias Welte, Ulrich Martin, Felix C Ringshausen, Ruth Olmer

期刊：

Stem Cell Research

影响因子：

0.800

时间：

2020

起止号：

2020 Oct:48:101988.

doi：

10.1016/j.scr.2020.101988

研究方向：

信号转导

Abstract

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)).

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