Generation of human induced pluripotent stem cell line derived from Becker muscular dystrophy patient with CRISPR/Cas9-mediated correction of DMD gene mutation

  • Stem Cell Res. 2024 Feb 3:76:103327. doi: 10.1016/j.scr.2024.103327.
Marta Przymuszała  1 ,  Alicja Martyniak  1 ,  Joanna Kwiatkowska  2 ,  Jarosław Meyer-Szary  2 ,  Karolina Śledzińska  3 ,  Jolanta Wierzba  3 ,  Józef Dulak  4 ,  Urszula Florczyk-Soluch  5 ,  Jacek Stępniewski  5
Affiliations
  • 1. Department of Medical Biotechnology, Faculty of Biochemistry, Biophysics and Biotechnology, Jagiellonian University, Kraków, Poland; Doctoral School of Exact and Natural Sciences, Jagiellonian University, Prof. St. Łojasiewicz 11, 30-348 Krakow, Poland.
  • 2. Department of Paediatric Cardiology and Congenital Heart Defects, Medical University of Gdańsk, Poland.
  • 3. Department of Paediatrics, Haematology and Oncology, Medical University of Gdańsk, Poland.
  • 4. Department of Medical Biotechnology, Faculty of Biochemistry, Biophysics and Biotechnology, Jagiellonian University, Kraków, Poland. Electronic address: [email protected].
  • 5. Department of Medical Biotechnology, Faculty of Biochemistry, Biophysics and Biotechnology, Jagiellonian University, Kraków, Poland.
PMID: 38324931 DOI: 10.1016/j.scr.2024.103327
Abstract

Becker muscular dystrophy (BMD) is an X-linked recessive disorder caused by in-frame deletions in the Dystrophin gene (DMD), leading to progressive muscle degeneration and weakness. We generated a human induced pluripotent stem cell (hiPSC) line from a BMD patient. BMD hiPSCs were then engineered by CRISPR/Cas9-mediated knock-in of missing exons 3-9 of DMD gene. Obtained hiPSC line may be a valuable tool for investigating the mechanisms underlying BMD pathogenesis.

Keywords
Becker muscular dystrophy, CRISPR; Cas9 technology.
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