Article
Generation of an induced pluripotent stem cell line from a patient with surfactant metabolism dysfunction carrying ABCA3 mutations.
Stem cell research - 1 May 2021
Yin Xiaojuan, Zhao Danhua, Tian Zhichen, Chen Jia, Chi Jinghan, Ke Yan, He Liu, Zhang Xuan, He Yanmei, Feng Zhichun
Abstract excerpt
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...
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