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.

B Malique Jones; Miao Xu; Jizhong Zou; Chengyu Liu; Yaqun Zou; Pankaj Pathak; Richa Madan Lomash; Rodica Stan; Carsten G B&#xf6;nnemann; Catherine Z Chen

doi:10.1016/j.scr.2026.104090

PubMed · 42673729

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.

B Malique Jones·Miao Xu·Jizhong Zou·Chengyu Liu·Yaqun Zou·Pankaj Pathak·Richa Madan Lomash·Rodica Stan·Carsten G Bönnemann·Catherine Z Chen

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Abstract

DOK7-related Congenital Myasthenic Syndrome (CMS) is a rare genetic neuromuscular junction disorder. This is one of the most common of the recessive forms of CMS, often presenting with more static proximal weakness (hence also referred to as limb girdle CMS). Whole-genome sequencing of affected patients implicates frameshift duplication mutations in DOK7 as drivers of impaired neuromuscular-junction signaling. In this study, we generated a human induced pluripotent stem cell (hiPSC) line TRNDi045-A-38 from the KOLF2.1J reference line, engineered to carry homozygous DOK7 c.1124_1127dupTGCC mutation knock-in using CRISPR/Cas9. This iPSC line could be used for in vitro disease modeling to study disease pathophysiology and for therapeutic development.

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Humans Induced Pluripotent Stem Cells Myasthenic Syndromes, Congenital Muscle Proteins Cell Line Homozygote Mutation Gene Knock-In Techniques Female CRISPR-Cas Systems Journal Article

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B Malique Jones, Miao Xu, Jizhong Zou, Chengyu Liu, Yaqun Zou, Pankaj Pathak, Richa Madan Lomash, Rodica Stan, Carsten G Bönnemann, Catherine Z Chen. 2026-08-26. 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.. https://doi.org/10.1016/j.scr.2026.104090

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