Creation of Induced Pluripotent Stem Cells RCMGi014-A Using Reprogramming of Urine Cells of a Patient with Fibrodysplasia Ossificans Progressiva Associated with Heterozygous Mutation in the ACVR1 Gene

Abstract

Fibrodysplasia ossificans progressiva (FOP) is a severe genetic disease caused by mutations in the ACVR1 gene for which there is currently no effective therapy. Therefore, obtaining iPSCs for further modeling and development of treatment methods, including gene therapy, can be very promising. The authors herein describe the generation of the induced pluripotent stem cell (iPSCs) line RCMGi014-A from urinary sediment cells of a patient with clinically expressed and genetically proven (ACVR1:c.6176G>A) FOP. These iPSCs proliferate in dense monolayer cell colonies, have a normal karyotype (46,XY), express pluripotency markers (OCT4, SOX2, TRA-1-60, SSEA-4), and show the ability to differentiate into three germ layers, which confirms their pluripotent status.