Stem Cell Res. 2026 Mar 10;93:103950. doi: 10.1016/j.scr.2026.103950. Online ahead of print.
ABSTRACT
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.
PMID:41825301 | DOI:10.1016/j.scr.2026.103950