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J. Zou

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Open access Aug 2026

Establishment of induced pluripotent stem cell line TRNDi045-A-38 carrying homozygous DOK7-related Congenital Myasthenia patient-mutation knock-in variant from parental KOLF2.1J.

A human induced pluripotent stem cell line TRNDi045-A-38 from the KOLF2.1J reference line is generated, engineered to carry homozygous DOK7 c.1124_1127dupTGCC mutation knock-in using CRISPR/Cas9, and could be used for in vitro disease modeling to study disease pathophysiology and for therapeutic development.

B. M. Jones, Miao Xu, J. Zou et al. · 0 citations

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