Evidence map›Paper›PMID 42673729›Full record

ArticleStem cell research2026

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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Article in Stem cell research, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

10 authors.

B Malique JonesTherapeutic Development Branch, National Center for Advancing Translational Sciences, Rockville, MD 20850, USA.
Miao XuTherapeutic Development Branch, National Center for Advancing Translational Sciences, Rockville, MD 20850, USA.
Jizhong ZouNational Heart, Lung, and Blood Institute, USA.
Chengyu LiuNational Heart, Lung, and Blood Institute, USA.
Yaqun ZouNeuromuscular & Neurogenetic Disorders of Childhood, Neurogenetics Branch, National Institute of Neurological Diseases and Stroke, National Institute of Health, Bethesda, MD 20892, USA.
Pankaj PathakNeuromuscular & Neurogenetic Disorders of Childhood, Neurogenetics Branch, National Institute of Neurological Diseases and Stroke, National Institute of Health, Bethesda, MD 20892, USA.
Richa Madan LomashTherapeutic Development Branch, National Center for Advancing Translational Sciences, Rockville, MD 20850, USA.
Rodica StanTherapeutic Development Branch, National Center for Advancing Translational Sciences, Rockville, MD 20850, USA.
Carsten G BönnemannNeuromuscular & Neurogenetic Disorders of Childhood, Neurogenetics Branch, National Institute of Neurological Diseases and Stroke, National Institute of Health, Bethesda, MD 20892, USA.
Catherine Z ChenTherapeutic Development Branch, National Center for Advancing Translational Sciences, Rockville, MD 20850, USA. Electronic address: catherine.chen@nih.gov.

Funding

Gene Therapy Platform for Rare DiseasesZIATR000281 · NCATS · NATIONAL CENTER FOR ADVANCING TRANSLATIONAL SCIENCES · PI OTTINGER, ELIZABETH · 2017 to 2025
$34.7M
Intramural NIH HHS Z99 TR999999Intramural NIH HHS ZIA TR000281
6 · The paper itself

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.

Indexed as

Induced Pluripotent Stem CellsMuscle ProteinsMutationMyasthenic Syndromes, CongenitalCell LineCRISPR-Cas SystemsFemaleGene Knock-In TechniquesHomozygoteHumansDOK7 protein, humanMuscle Proteins

Identifiers

PMID42673729
PMCPMC13643754

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.