Objective To construct and identify the induced pluripotent stem cells(iPSCs)derived from peripheral blood mononuclear cells(PBMCs)of a patient with facioscapulohumeral muscular dystrophy(FSHD),initially explore their differentiation ability into skeletal muscle cells,and evaluate the feasibility of using this cell model for disease mechanism research.Methods The PBMCs from one FSHD patient were collected and transfected with Sendai virus containing four reprogramming transcription factors,including OCT4,SOX2,KLF4 and c-MYC,so as to obtain the iPSCs from the FSHD patient.Then,the iPSCs were induced to differentiate into skeletal muscle cells.The characteristics of the iPSCs and skeletal muscle cells were evaluated by the optical genome mapping technolo-gy,karyotyping analysis,immunofluorescence staining,and real-time fluorescence quantitative PCR.Results The iPSCs from the FSHD patient were successfully obtained,which could express the markers of iPSCs.The karyotype and D4Z4 repeat unit of the iPSCs were consistent with that of the patient.The iPSCs could be induced to differentiate into skeletal muscle cells in vitro,which expressed the pathogenic gene DUX4 and its regulatory genes.Conclusion The PBMCs from one FSHD patient can be reprogrammed into iPSCs,which can be differentiated into disease-related myogenic progenitor cells and myotubes.This provides a useful cell model for in vitro studies of the pathogenesis of FSHD and a tool for the effective treatment of FSHD.