Generation of a human iPSC line (FDCHi009-A) from a patient with CHARGE syndrome carrying a novel CHD7 mutation (c.2939 T > C)

Abstract

CHARGE syndrome (OMIM 214800) is an autosomal dominant disease with coloboma, heart defects, atresia of choanae and retardation of growth and/or development, etc. CHD7 mutation is the major known pathogenic cause in patients with CHARGE syndrome. A human iPSC line with a novel heterozygous mutation (CHD7 c.2939 T > C) was constructed from peripheral blood mononuclear cells of a patient with CHARGE syndrome. The iPSC line showed normal karyotype, highly expressed pluripotency markers, and had differentiation potential of three germ layers. This iPSC line provides a useful model to study the underlying mechanisms and drug screening of CHARGE syndrome.