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

被引：0
|
作者：
Przymuszala, Marta [1 ,2 ]
Martyniak, Alicja [1 ,2 ]
Kwiatkowska, Joanna [3 ]
Meyer-Szary, Jaros law [3 ]
Sledzinska, Karolina [4 ]
Wierzba, Jolanta [4 ]
Dulak, Jozef [1 ]
Florczyk-Soluch, Urszula [1 ]
Stepniewski, Jacek [1 ]
机构：
[1] Jagiellonian Univ, Fac Biochem Biophys & Biotechnol, Dept Med Biotechnol, Krakow, Poland
[2] Jagiellonian Univ, Doctoral Sch Exact & Nat Sci, Prof St Lojasiewicz 11, PL-30348 Krakow, Poland
[3] Med Univ Gdansk, Dept Paediat Cardiol & Congenital Heart Defects, Gdansk, Poland
[4] Med Univ Gdansk, Dept Paediat Haematol & Oncol, Gdansk, Poland
来源：
STEM CELL RESEARCH | 2024年 / 76卷
关键词：
Becker muscular dystrophy CRISPR; Cas9; technology;
D O I：
10.1016/j.scr.2024.103327
中图分类号：
Q813 [细胞工程];
学科分类号：
摘要：
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/Cas9mediated 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.
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页数：6
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