Abstract

Patau syndrome is a rare congenital malformation syndrome due to the presence of an extra chromosome 13. In this paper, we report the generation of an induced pluripotent stem cell line from the fibroblasts isolated from chorionic villi of an early spontaneously aborted foetus with Patau syndrome. The Patau syndrome villus induced pluripotent stem cell line retains the original trisomy 13 karyotype, expresses pluripotency markers and induces teratoma formation in NOD-SCID mice. This pluripotent stem cell model of Patau syndrome should serve as a tool to study this congenital malformation syndrome.

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