biostudies-literatureJoseph BIntramural NIH HHSNational Institutes of Health103504https://www.ebi.ac.uk/biostudies/studies/S-EPMC11426554biostudies-literatureUnknown80We have successfully generated human induced pluripotent stem cells (hiPSC) from peripheral blood mononuclear cells (PBMCs) of a patient with COPA Syndrome. The patient, a 6 year old Caucasian male, has a spontaneous de novo missense mutation that replaced alanine with proline in the COPA gene. This paper confirms the differentiation potential of the hiPSC line, the presence of the p.Ala239Pro mutation, and the expression of typical pluripotency markers within the hiPSC line. The hiPSC line is ready for use as a cellular model of COPA Syndrome.Stem cell researchEstablishment of a human induced pluripotent stem cell line (NIHTVBi031-A) derived from a COPA syndrome patient with a heterozygous p.Ala239Pro mutation.PMC11426554ZIA HL006079Manohar-Sindhu SFriend KZou JEmmerich KSipwoli CJoseph BGoldbach-Mansky RYang Dde Jesus Rasheed AAVarea ITang XBoehm MfalseEstablishment of a human induced pluripotent stem cell line (NIHTVBi031-A) derived from a COPA syndrome patient with a heterozygous p.Ala239Pro mutation.We have successfully generated human induced pluripotent stem cells (hiPSC) from peripheral blood mononuclear cells (PBMCs) of a patient with COPA Syndrome. The patient, a 6 year old Caucasian male, has a spontaneous de novo missense mutation that replaced alanine with proline in the COPA gene. This paper confirms the differentiation potential of the hiPSC line, the presence of the p.Ala239Pro mutation, and the expression of typical pluripotency markers within the hiPSC line. The hiPSC line is ready for use as a cellular model of COPA Syndrome.2024-01-01T00:00:00Z2024 Oct2026-06-02T22:15:07.187Z2025-04-06T12:49:36.776ZS-EPMC114265543911099910.1016/j.scr.2024.103504