Generation of an iPSC line (DPNJMUi002-A) from a progressive familial intrahepatic cholestasis 3 (PFIC3) patient with a heterozygous mutation in the ABCB4 gene

Abstract

progressive familial intrahepatic cholestasis 3 (PFIC3) caused by mutations in ABCB4 gene is a rare lethal autosomal recessive liver disease. Here, we detail the reprogramming of peripheral blood mononuclear cells (PBMCs) using non-integrative Sendai virus to produce induced pluripotent stem cells (iPSCs) from a child carrying the ABCB4 mutation. The obtained iPSC presented normal karyotype, high expression of pluripotency markers and the capacity to differentiate into cells of three germ layers.