Generation of an induced pluripotent stem cell line (NCHi026-A) from a patient with a partial deletion of exon 55 in the DMD gene
Summary
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. Copyright © 2026. Published by Elsevier B.V.
| Authors | Lin H, Nicolau S, Stevens K, Vetter TA, Atkins S, Frair EC, Wein N, Zhao MT, Gushchina LV, Flanigan KM |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2026 Apr 30;94:104007 |
| PubMed | 42096741 |
| DOI | 10.1016/j.scr.2026.104007 |