Establishment 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...

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Bibliographic Details

Published in:	Stem Cell Research
Main Authors:	Benjamin Joseph, Isabella Varea, Kevin Emmerich, Sahana Manohar-Sindhu, Jizhong Zou, Kip Friend, Caleb Sipwoli, Xuming Tang, Dan Yang, Adriana A de Jesus Rasheed, Raphaela Goldbach-Mansky, Manfred Boehm
Format:	Article
Language:	English
Published:	Elsevier 2024-10-01
Online Access:	http://www.sciencedirect.com/science/article/pii/S1873506124002022