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.
Authors
- E. Frair (ORCID: https://orcid.org/0000-0003-0360-6502)
- Nicolas Wein (ORCID: https://orcid.org/0000-0002-5892-3639)
- Stefan Nicolau (ORCID: https://orcid.org/0000-0001-5631-0559)
- Kevin M. Flanigan (ORCID: https://orcid.org/0000-0001-6440-3376)
- Tatyana A. Vetter (ORCID: https://orcid.org/0000-0002-9904-9140)
- Liubov V. Gushchina
- Sarah Atkins
- Hui Lin (ORCID: https://orcid.org/0000-0002-1374-1989)
- Kayla Stevens
- Ming-Tao Zhao
Institutions
- Nationwide Children's Hospital (US)
- Inserm (FR)
- The Ohio State University (US)
- Nantes Université (FR)
Publication Details
- 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
Funders
- National Institutes of Health