Generation of induced pluripotent stem cell lines from patients with Emery-Dreifuss muscular dystrophy
Summary
Emery-Dreifuss muscular dystrophy (EDMD) stems from pathogenic variants in LMNA. We generated two patient-specific iPSC lines from peripheral blood: SCVIi145-A carrying LMNA c.241T > C (p.Tyr81His) and SCVIi146-A carrying LMNA c.357-2A > G. Non-integrating Sendai reprogramming produced stable colonies that expressed undifferentiated human induced pluripotent stem cell (iPSC) state markers, cleared vector RNA by passage 16, and showed normal copy-number profiles by low-pass whole-genome sequencing (LP-WGS). Both lines matched donor STR profiles and formed ectoderm, mesoderm, and endoderm in directed differentiation. These lines enable studies of lamin-associated nuclear defects and support cardiac and skeletal muscle disease modeling. Copyright © 2026. Published by Elsevier B.V.
| Authors | Chorsi MS, Mui BJWH, Tan R, Fernandez HM, Xu L, Chao JT, Sampson JB, Wheeler MT, Wu JC |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2026 Mar;91:103926 |
| PubMed | 41690201 |
| DOI | 10.1016/j.scr.2026.103926 |