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Human induced pluripotent stem cell line (FDHSi005-A) derived from a patient with a deep intronic variant in the GNE gene.

Stem cell research - 1 Dec 2024

Jiao Kexin, Zhang Jialong, Wang Ningning, Gu Xingyu, Chang Xuechun, Xia Xingyu, Zhu Bochen, Gao Mingshi, Cheng Nachuan, Zhao Chongbo, Xi Jianying, Zhu Wenhua

Abstract excerpt

GlcNAc2-epimerase myopathy is a rare autosomal recessive myopathy characterized by distal involvement in the lower extremities. Our study reprogrammed human-induced pluripotent stem cells from peripheral blood mononuclear cells of a patient with GNE gene deep intronic variant c.862 + 870C>T and c.478C>T compound heterozygous mutations that co-segregated with the disease. The generated iPSCs express pluripotent...

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Cell Differentiation
Cell Line
Induced Pluripotent Stem Cells
Introns
Multienzyme Complexes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 39303320
DOI: 10.1016/j.scr.2024.103562

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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