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

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

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: jozef.dulak@uj.edu.pl.
  • 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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