[Establishment of induced pluripotent stem cell lines from human amniotic fluid cells with 1q21.1 microdeletion]

To reprogram the 1q21.1 microdeletion pluripotent stem cells in order to establish an ideal model for further studying its pathogenesis.

Human amniotic fluid-derived cells induced pluripotent stem cells (hAF-iPSCs) were induced from amniotic fluid cells harboring the 1q21.1 microdeletion by retroviral vectors encoding Oct4, Sox2, c-Myc and Klf4. Characteristics of the 1q21.1 microdeletion hAF-iPSCs were determined, which included in vitro pluripotency, karyotype, microarray analysis, the capacity of differentiation in vivo and in vitro, etc.

hAF-iPSCs derived from amniotic fluid cells harboring the 1q21.1 microdeletion have maintained self renewal, with expression of pluripotency marker genes detectable at mRNA level. Stem cell surface antigens were tested by immunocytochemistry. The 1q21.1 microdeletion hAF-iPSCs showed a normal karyotype after long-term culturing in vitro, and harbored the same microdeletion as confirmed by microarray analysis. The cells have maintained their differentiation capacity both in vivo and in vitro.

The hAF-iPSCs harboring the 1q21.1 microdeletion have all the characteristics of normal pluripotent stem cells, and can be used for directed differentiation into specific cells, which may provide an ideal model for studying the pathogenesis of 1q21.1 microdeletion in vitro.