ArticleZhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences2025
[Generation of induced pluripotent stem cells from peripheral blood mononuclear cells of a patient with autosomal recessive Charcot
Article in Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences, 2025. 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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Abstract
objectivesCharcot-Marie-Tooth disease (CMT) is a group of common monogenic peripheral neuropathies listed in the first National Rare Disease Catalog of China and is characterized by marked clinical and genetic heterogeneity. Immunoglobulin μ-binding protein 2 (IGHMBP2) is a ubiquitously expressed nucleic acid helicase, and mutations in the
methodsClinical data of a patient with AR-CMT2S who was diagnosed in September 2022 at the Department of Neurology, Third Xiangya Hospital of Central South University, were collected and analyzed. Pathogenic variants in
resultsThe iPSCs derived from the AR-CMT2S patient were successfully generated. The established iPSC line retained the same
conclusionsAn iPSC line derived from a patient with AR-CMT2S caused by
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