Establishment of a human induced pluripotent stem cell line (NIHTVBi031-A) derived from a COPA syndrome patient with a heterozygous p.Ala239Pro mutation - Joseph, Benjamin; Varea, Isabella; Emmerich, Kevin; Manohar-Sindhu, Sahana; Zou, Jizhong; Friend, Kip; Sipwoli, Caleb; Tang, Xuming; Yang, Dan; de Jesus Rasheed, Adriana A; Goldbach-Mansky, Raphaela; Boehm, Manfred (Stem cell research, 2024)
Keywords: Cell Differentiation; Cell Line; Child; Heterozygote; Humans; Induced Pluripotent Stem Cells - metabolism; Leukocytes, Mononuclear - cytology; Leukocytes, Mononuclear - metabolism; Male; Mutation