Jiang Yunsong, Devito Liani G, Muntoni Francesco, Healy Lyn, Tedesco Francesco Saverio
Department of Cell and Developmental Biology, University College London, London WC1E 6DE, UK; Stem Cells and Neuromuscular Regeneration Laboratory, The Francis Crick Institute, 1 Midland Road, London NW1 1AT, UK.
Human Embryo and Stem Cell Unit, The Francis Crick Institute, London, UK.
Stem Cell Res. 2025 Mar;83:103648. doi: 10.1016/j.scr.2024.103648. Epub 2024 Dec 30.
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.
乌尔里希先天性肌营养不良症（UCMD）是与VI型胶原蛋白相关的肌营养不良症（COL6-RDs）中最严重的亚型，这是一系列影响骨骼肌和结缔组织的罕见细胞外基质疾病。在此，我们通过使用基于非整合mRNA的方案对皮肤成纤维细胞进行重编程，从一名COL6A1基因发生新生显性负性突变的UCMD患者中生成了诱导多能干细胞（iPSC）系（CRICKi021-A）。所得的人iPSC表现出正常形态，表达多能性相关标志物，并分化为三个胚层。这个新的COL6A1突变iPSC系可用于疾病建模以及研究COL6-RDs的潜在治疗方法。
