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Article

Generation of BBSOAS patient-specific induced pluripotent stem cell lines harboring six NR2F1 pathogenic variants.

Stem cell research - 1 Jun 2026

Bertacchi Michele, Desprat Romain, Lesca Gaetan, Quelin Chloé, Willems Marjolaine, Vincent-Delorme Catherine, Faivre Laurence, Jorgensen Christian, Studer Michèle

Abstract excerpt

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...

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Identifiers

PMID: 41825301
DOI: 10.1016/j.scr.2026.103950

Genes

NR2F1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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