Reprogramming of human Peripheral Blood Mononuclear Cell (PBMC) from a Chinese patient suffering Duchenne muscular dystrophy to iPSC line (SDQLCHi007-A) carrying deletion of 49-50 exons in the DMD gene

Jingyun Guan, Xinnong Liu, Haiyan Zhang, Xiaomeng Yang, Yanyan Ma, Yue Li, Zhongtao Gai, Yi Liu
Source: Stem Cell Res
Publication Date: (2020)
Issue: 42: 101666
Research Area:
Stem Cells
Cells used in publication:
PBMC, human
Species: human
Tissue Origin: blood
4D-Nucleofector™ X-Unit

PBMCs were isolated from patient’s peripheral blood and cultured for some time to enrich erythroblasts. Solution P3 and EO-100 and non-integrating vectors were used for reprogramming. After reprogramming, cells were cultivated on feeder (MEF). First colonies isolated after 12 days.


Duchenne muscular dystrophy (DMD), an X-linked genetic disorder characterized by progressive muscle weakness and atrophies affecting skeletal and cardiac muscles, is caused by mutations in dystrophin (DMD) gene that spans 79 exons. Here, we generated iPSCs from a Chinese patient with 49-50 exons deletion in DMD gene by reprogramming peripheral blood mononuclear cells with non-integrating vectors. The generated iPSCs line (SDQLCHi007-A) carrying the identical deletion of 49-50 exons, expresses pluripotency markers, presents a normal karyotype and is able to differentiate into three germ layers.