Generation of an iPSC line from congenital hypopituitarism patient with a nonsense heterozygous variant in FOXA2

Abstract

Forkhead box A2 (FOXA2) is a pioneer transcription factor, necessary for human development. Mutations in FOXA2 were recently associated with congenital hypopituitarism (CH); however, the pathogenic mechanism remains unknown. Induced pluripotent stem cells from a patient with CH carrying a heterozygous FOXA2 variant (c.686C > A; p.S229*) were obtained by cellular reprogramming from the patient's peripheral blood mononuclear cells. The generated iPSCs exhibited all hallmarks of pluripotency, differentiated into the three germ layers, and presented a normal karyotype. This resource represents a valuable tool for investigating the role of FOXA2 in pituitary development and associated disorders.