Generation of an induced pluripotent stem cell line from a congenital microtia patient with 4p16.1 microduplication involving the long-range enhancer of HMX1.

Congenital microtia is a malformation of the middle and external ear. Duplications involving the ECR, an ear-specific long-range enhancer of HMX1, lead to ear malformation in different species. Use of electroporation of episomal plasmids encodes OCT4, SOX2, NANOG, LIN28, KLF4, and LMYC into peripheral blood mononuclear cells (PBMCs), we generated an induced pluripotent stem cell (iPSCs) line of a microtia patient carrying the duplication involving ECR. The iPSCs express pluripotency markers, have the potential to differentiate into three germ layers, and show the normal karyotype. This patient-specific iPSC will be used for modeling the pathophysiology of ear malformation.