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

Autor: Marta Przymuszała, Alicja Martyniak, Joanna Kwiatkowska, Jarosław Meyer-Szary, Karolina Śledzińska, Jolanta Wierzba, Józef Dulak, Urszula Florczyk-Soluch, Jacek Stępniewski
Jazyk: angličtina
Rok vydání: 2024
Předmět:
Zdroj: Stem Cell Research, Vol 76, Iss , Pp 103327- (2024)
Druh dokumentu: article
ISSN: 1873-5061
DOI: 10.1016/j.scr.2024.103327
Popis: 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.
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