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

被引：0
|
作者：
Jiang, Yunsong [1 ,2 ]
Devito, Liani G. [3 ]
Muntoni, Francesco [4 ,5 ]
Healy, Lyn [3 ]
Tedesco, Francesco Saverio [1 ,2 ,4 ,5 ]
机构：
[1] UCL, Dept Cell & Dev Biol, London WC1E 6DE, England
[2] Francis Crick Inst, Stem Cells & Neuromuscular Regenerat Lab, 1 Midland Rd, London NW1 1AT, England
[3] Francis Crick Inst, Human Embryo & Stem Cell Unit, London, England
[4] UCL Great Ormond St Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England
[5] Great Ormond St Hosp Sick Children, London, England
来源：
STEM CELL RESEARCH | 2025年 / 83卷
基金：
英国科研创新办公室; 欧洲研究理事会; 英国惠康基金; 英国医学研究理事会;
关键词：
D O I：
10.1016/j.scr.2024.103648
中图分类号：
Q813 [细胞工程];
学科分类号：
摘要：
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.
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页数：4
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