Establishment of an induced pluripotent stem cell line from a patient with primary ciliary dyskinesia carrying biallelic mutations in CCNO

• DOI: 10.1016/j.scr.2021.102372
• Publication Date: 2021-04-29T07:34:37Z
• Authors: Xuan Xu; Liu Dong; Cong Ma; Xiaofeng Xu; Huan Wu; Jianye Wang; Ping Zhou; Yunxia Cao; Zhaolian Wei
• Keywords: 0301 basic medicine; 03 medical and health sciences; QH301-705.5; Induced Pluripotent Stem Cells; Mutation; Leukocytes, Mononuclear; Humans; Female; Cilia; Biology (General); Ciliary Motility Disorders; 3. Good health

Primary ciliary dyskinesia (PCD) is an autosomal recessive hereditary disorder affecting motile cilia structure and function, which leads to respiratory diseases and infertility. Here, an induced pluripotent stem cell (iPSC) line of PCD was generated from peripheral blood mononuclear cells of a female patient carrying biallelic mutations in Cyclin O (CCNO) gene. Reprogramming was performed with the non-integrated episomal vectors. The obtained transgene-free iPSCs had normal karyotypes, expressed pluripotency genes, and differentiated into three germ layers. This iPSC line could be a useful guide for studying the pathogenic mechanism, establishing a disease model of PCD, and screening potential therapeutic targets.