Generation of human induced pluripotent stem cells from a patient with Beckwith-Wiedemann syndrome
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Beckwith-Wiedemann syndrome (BWS) is a human genomic imprinting disorder caused by an imprinting abnormality in the chromosome 11p15.5 region. It is rare and sporadic with unclear etiology and pathogenesis. We identified a family with a clustering of BWS cases. An induced pluripotent stem cell line (BWS iPSC) was generated from peripheral blood mononuclear cells (PBMCs) of one affected family member using a non-integrating reprogramming method. This cell line could be further differentiated into multiple lineages, enabling us to determine the relationship of the expression of abnormal imprinting genes in BWS to cellular phenotypes, thus elucidating the pathogenic mechanisms of BWS. In future, the multi-lineage cells can be used to test various innovative therapies, providing conceptual validation for the treatment of BWS.
