Derivation of induced pluripotent stem cells from one child suffering Potocki-Lupski syndrome.

Potocki-Lupski syndrome (PTLS; MIM 610883) is a neurodevelopmental disorder associated with a 3.7 Mb copy number variant (CNV) duplication, locating in chromosome 17p11.2. (Soler-Alfonso et al., 2011). Here, a human induced pluripotent stem cell (iPSC) line was derived from the peripheral blood mononuclear cells of a 5-year-old child suffering Potocki-Lupski syndrome. The generated iPSCs were integration-free, had the 17p11.2 3.7 Mb CNV duplication with no additional genomic alterations, a stable karyotype, expressed pluripotency stem cell markers and could differentiate towards the three germ layers in vitro. Patient's derived iPSCs are a valuable resource for in vitro modeling of 17p11.2 microduplication induced Potocki-Lupski syndrome.