Generation of a human induced pluripotent stem cell line (CRICKi021-A) from a patient with Ullrich congenital muscular dystrophy carrying a pathogenic mutation in the COL6A1 gene
Summary
Ullrich congenital muscular dystrophy (UCMD) represents the most severe subtype of collagen VI-related dystrophies (COL6-RDs), a spectrum of rare extracellular matrix disorders affecting skeletal muscle and connective tissue. Here, we generated an induced pluripotent stem cell (iPSC) line (CRICKi021-A) from a UCMD patient with de novo dominant-negative mutation in COL6A1 gene by reprogramming dermal fibroblasts using a non-integrating mRNA-based protocol. The resulting human iPSCs displayed normal morphology, expressed pluripotency-associated markers and differentiated into the three germ layers. This new COL6A1-mutant iPSC line can be employed for disease modelling and for investigating potential therapies for COL6-RDs. Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Jiang Y, Devito LG, Muntoni F, Healy L, Tedesco FS |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Dec 30;83:103648 |
| PubMed | 39764974 |
| DOI | 10.1016/j.scr.2024.103648 |