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

Camilletti, María Andrea; Chirino Felker, Gonzalo Tomás; Castañeda, Sheila; Zabalegui, Federico; Amin, Guadalupe; Belgorosky, Alicia; Ciaccio, Marta; Di Palma, Maria Isabel; Vaiani, Elisa; Waisman, Ariel; Miriuka, Santiago Gabriel; Pérez Millán, María Inés; Moro, Lucia Natalia

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

Camilletti, María Andrea; Chirino Felker, Gonzalo Tomás; Castañeda, Sheila; Zabalegui, Federico; Amin, Guadalupe; Belgorosky, Alicia; Ciaccio, Marta; Di Palma, Maria Isabel; Vaiani, Elisa; Waisman, Ariel; Miriuka, Santiago Gabriel; Pérez Millán, María Inés; Moro, Lucia Natalia

URI: https://doi.org/10.1016/j.scr.2025.103777
https://repositorio.fleni.org.ar/xmlui/handle/123456789/1412

Datum: 2025-07-15

Zusammenfassung:

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.

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