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Scaled and efficient derivation of loss-of-function alleles in risk genes for neurodevelopmental and psychiatric disorders in human iPSCs.

Stem cell reports - 8 Oct 2024

Zhang Hanwen, McCarroll Ada, Peyton Lilia, Díaz de León-Guerrerro Sol, Zhang Siwei, Gowda Prarthana, Sirkin David, ElAchwah Mahmoud, Duhe Alexandra, Wood Whitney G, Jamison Brandon, Tracy Gregory, Pollak Rebecca, Hart Ronald P, Pato Carlos N, Mulle Jennifer G, Sanders Alan R, Pang Zhiping P, Duan Jubao

Abstract excerpt

Translating genetic findings for neurodevelopmental and psychiatric disorders (NPDs) into actionable disease biology would benefit from large-scale and unbiased functional studies of NPD genes. Leveraging the cytosine base editing (CBE) system, we developed a pipeline for clonal loss-of-function (LoF) allele mutagenesis in human induced pluripotent stem cells (hiPSCs) by introducing premature stop codons (iSTOP)...

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Identifiers

PMID: 39270650
DOI: 10.1016/j.stemcr.2024.08.003
PMCID: PMC11561461

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