Generation of an iPSC line (with isogenic control) from the PBMCs of a COL6A1 (c.1056 + 2T > A) Bethlem myopathy patient

Generation of an iPSC line (with isogenic control) from the PBMCs of a COL6A1 (c.1056 + 2T > A) Bethlem myopathy patient

To produce an in vitro model of Bethlem myopathy, we reprogrammed the peripheral blood mononuclear cells (PBMCs) of a patient with a heterozygous COL6A1 c.1056 + 2T > A mutation at the exon/intron 14 boundary of the COL6A1 gene to induced pluripotent stem cells (iPSCs). Using CRISPR/Cas9 gene edi...

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Bibliographic Details
Main Authors: Vanessa G. Crossman, Chrystal F. Tiong, Chantal A. Coles, Kiymet Bozaoglu, Robin Forbes, Eppie M. Yiu, Avnika A. Ruparelia, Peter D. Currie, Katerina Vlahos, Sara E Howden, Kathryn N. North, Shireen R. Lamandé, Peter J. Houweling
Format: Article
Language:English
Published: Elsevier 2025-04-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506125000236
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