Establishment of a human induced pluripotent stem cell line, KMUGMCi009-A, from a patient bearing a missense mutation in the MED12 gene leading X-linked Ohdo syndrome

Abstract

X-linked Ohdo syndrome is a heterogenous group of disorders characterized by intellectual disability and typical facial features including blepharophimosis. The X-linked Ohdo syndrome is caused by a loss-of-function mutation in the MED12 gene on the X chromosome. The peripheral blood mononuclear cells from a patient carrying missense mutation in the MED12 gene were reprogrammed using the CytoTune-iPS2.0 Sendai Reprogramming Kit. The KMUGMCi009-A cell line was derived from a brother of the KMUGMCi010 patient carrying the same mutation. The missense mutation causes the abnormal protein variant. The established human induced pluripotent cell line will allow proper in vitro disease modelling of X-linked Ohdo syndrome.