Generation of induced pluripotent stem cell lines from patients with Emery-Dreifuss muscular dystrophy

Stem Cell Research 2026 Open access

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Authors: Mey-Sam Chorsi, Byron J.W.H. Mui, Renke Tan, Haley Fernandez, Ping Xu, Jade Chao, Jacinda B. Sampson, Matthew T. Wheeler, Joseph C. Wu
DOI: 10.1016/j.scr.2026.103926
Cited by: 2
References: 6

Abstract

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.

Fields of Study & Subjects

Nuclear Structure and Function RNA Research and Splicing RNA modifications and cancer

Publication details

Journal / source
Stem Cell Research
Publisher
Elsevier BV
Volume
91
Pages
103926–103926
Publication date
7 February 2026
Language
EN