Generation of an induced pluripotent stem cell line (NCHi026-A) from a patient with a partial deletion of exon 55 in the DMD gene

Duchenne muscular dystrophy (DMD) is an X-linked genetic disorder disease which is characterized by progressive muscle degeneration or weakness due to the loss of functional dystrophin expression. For use as a cell-based disease model, we generated an induced pluripotent stem cell (iPSC) line (NCHi026-A) from fibroblasts derived from a skin biopsy of a 13-year-old patient with a nucleotide deletion across the DMD intron 54/exon55 junction (c.8028-501_8078del). The resulting cell line NCHi026-A was free of transgenes, expressed pluripotency-associated stem cell markers, maintained the normal karyotype and could be differentiated into three germ layers in vitro.

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Journal
Stem Cell Research
Published
2026-04-30
DOI
https://doi.org/10.1016/j.scr.2026.104007
Primary Topic
Pluripotent Stem Cells Research
Type
article
Field-Weighted Citation Impact
0.00

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article

Generation of an induced pluripotent stem cell line (NCHi026-A) from a patient with a partial deletion of exon 55 in the DMD gene

E. Frair, Nicolas Wein, Stefan Nicolau, Kevin M. Flanigan et al.
Stem Cell Research
Pluripotent Stem Cells Research
article

Generation of an induced pluripotent stem cell line (NCHi026-A) from a patient with a partial deletion of exon 55 in the DMD gene

E. Frair, Nicolas Wein, Stefan Nicolau, Kevin M. Flanigan, Tatyana A. Vetter, Liubov V. Gushchina, Sarah Atkins, Hui Lin, Kayla Stevens, Ming-Tao Zhao
article en

Abstract

Duchenne muscular dystrophy (DMD) is an X-linked genetic disorder disease which is characterized by progressive muscle degeneration or weakness due to the loss of functional dystrophin expression. For use as a cell-based disease model, we generated an induced pluripotent stem cell (iPSC) line (NCHi026-A) from fibroblasts derived from a skin biopsy of a 13-year-old patient with a nucleotide deletion across the DMD intron 54/exon55 junction (c.8028-501_8078del). The resulting cell line NCHi026-A was free of transgenes, expressed pluripotency-associated stem cell markers, maintained the normal karyotype and could be differentiated into three germ layers in vitro.

Stem Cell ResearchVol. 94
Nationwide Children's Hospital (US), Inserm (FR), The Ohio State University (US), Nantes Université (FR)
National Institutes of Health
Zero hunger
Openalex Percentile: Top 12%
Pluripotent Stem Cells Research
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