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
Year: 2024
Type: article
Abstract: 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.
Source: Stem Cell Research
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $2,320
Funders: Wellcome Trust, Francis Crick Institute, UK Research and Innovation, Cancer Research UK, National Institute for Health and Care Research, University College London, European Commission, Great Ormond Street Hospital for Children, University College London Hospitals NHS Foundation Trust, HORIZON EUROPE Framework Programme, Medical Research Council, European Research Council, NIHR Imperial Biomedical Research Centre, HORIZON EUROPE Excellent Science
OpenAlex ID: W4405905300