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.

引用

页数：6

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