PURPOSE:To generate and identify gnathodiaphyseal dysplasia(GDD)patient and healthy donor derived in-duced pluripotent stem cells from a Chinese GDD family caused by a mutation in ANO5 gene.METHODS:The clinical manifestations,skeletal radiographic features,bone mineral density(BMD),and bone turn over biomarkers were investigated of 5 patients from a Chinese GDD family with facial deformities.Peripheral blood mononuclear cells(PBMCs)from one patient and one non-patient were collected and transfected with sendai virus carrying Oct4,Sox2 and Klf4 to be repro-grammed into iPSCs.The pluripotency was tested by alkaline phosphatase staining,immune-fluorescence,qPCR,and karyotyping analysis.RESULTS:GDD was mainly manifested as diffuse expansive swelling of maxilla and mandible with reduced bone mineral density throughout the body.iPSCs derived from PBMCs of the patient and the healthy donor main-tained pluripotency.CONCLUSIONS:PBMCs of GDD patient are successfully reprogrammed into integration-free iPSCs with the pluripotency.These iPSCs provide a valuable cell model for mechanism exploration.
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