Abstract :Objective To construct and identify the induced pluripotent stem cells ( iPSCs ) derived from peripheral blood mononuclearcells (PBMCs) of a patient with facioscapulohumeral muscular dystrophy (FSHD ) ，initally explore their differeniation ability intoskeletal muscle cells ,and evaluate the feasibility of using this cell model for disease mechanism reseamch.MethodsThe PBMCs fromone FSHD patient were collected and transfeced with Sendai vinus containing four reprogramming transcription factors，including0CT4, SOX2，KLF4 and c-MYC，so as to obtain the iPSCs from the FSHD patient. Then, the iPSCs were induced to diflerentiate intoskeletal muscle ells. The characteristics of the iPSCs andl skeletal muscle cells were evaluated by the optical genome mapping technolo-gy , karyotyping analysis ,immunoluorescence staining， and real-time fluorescence quantitative PCR. Results The iPSCs from theFSHD patient were successhully obtained， which could express the markers of iPSCs. The karyotype and D4AZ4 repeat unit of the iPSCswere consistent with that of the patient. T'he iPSCs could be induced to diferentiate into skeletal muscle cells in uitro, which expressedthe pathogenic gene DUX4 and is regulatory genes. ConclusionThe PBMCs from one FSHD patient can be reprogrammed intoiPSCs，which can be differentiated into disease-related myogenic progenitor cells and myotubes. This provides a useful cell modlel for invitro studies of the pathogenesis of FSHD and a tool for the effective treatment of FSHD.