Generation of an induced pluripotent stem cell line from a patient with surfactant metabolism dysfunction carrying ABCA3 mutations
oleh: Xiaojuan Yin, Danhua Zhao, Zhichen Tian, Jia Chen, Jinghan Chi, Yan Ke, Liu He, Xuan Zhang, Yanmei He, Zhichun Feng
| Format: | Article |
|---|---|
| Diterbitkan: | Elsevier 2021-05-01 |
Deskripsi
Surfactant dysfunction is a genetically heterogeneous pulmonary disease that causes dyspnea. ATP binding cassette protein transporter subunit A3 (ABCA3) is the main pathogenic gene of pulmonary surfactant dysfunction. In this study, we established an induced pluripotent stem cell line (SMCPGHi001-A) from the peripheral blood cells of a 49-day-old male infant, carrying compound heterozygous variations of the ABCA3 gene (c.3997_3998del, p.R1333fs, and c.3137C > T, p.A1046V). This iPSC line would be a useful tool to study the pathogenesis, disease development, and treatment of pulmonary surfactant dysfunction.