Fiche publication
Date publication
mars 2026
Journal
Stem cell research
Auteurs
Membres identifiés du Cancéropôle Est :
Pr FAIVRE Laurence
Tous les auteurs :
Bertacchi M, Desprat R, Lesca G, Quelin C, Willems M, Vincent-Delorme C, Faivre L, Jorgensen C, Studer M
Lien Pubmed
Résumé
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS) is a rare autosomal dominant neurodevelopmental disorder caused by mutations or deletions in NR2F1, leading to intellectual disability, developmental delay, visual impairments, epilepsy, hypotonia, and autistic traits. We generated six novel human induced pluripotent stem cell (hiPSC) lines from BBSOAS patients with variable clinical phenotypes. These lines provide a versatile and renewable resource by serving as a unique platform to model NR2F1-related developmental defects in vitro and elucidate the molecular and cellular mechanisms underlying BBSOAS. Their availability will facilitate mechanistic, comparative, and therapeutic studies, advancing our understanding of NR2F1 function in human neural development.
Référence
Stem Cell Res. 2026 03 10;93:103950
