Generation of a human induced pluripotent stem cell line from a CHARGE syndrome patient with CHD7 mutation (c.3982C>T)

Abstract

CHARGE syndrome is a multisystem neurodevelopmental disorder characterized by coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities, and ear abnormalities. The CHD7 gene is the causal gene. A human iPSC line harboring a de novo heterozygous CHD7 mutation (c.3982C>T) was generated from peripheral blood mononuclear cells of a patient with CHARGE syndrome. This iPSC line exhibited typical human embryonic stem cell-like morphology, pluripotent markers, normal karyotype, and could differentiate into the three germ layers. This iPSC line is valuable for studying disease mechanisms and conducting drug screening in patient with CHARGE syndrome.