Stem Cell Research (Jul 2020)

Generation of induced pluripotent stem cells (KSCBi009-A) from a patient with Prader–Willi syndrome (PWS) featuring deletion of the paternal chromosome region 15q11.2–q13

  • Bo-Young Kim,
  • Jin-Sung Lee,
  • Yong-Ou Kim,
  • Soo Kyung Koo,
  • Mi-Hyun Park

Journal volume & issue
Vol. 46
p. 101847


Read online

Prader–Willi syndrome (PWS) is a neurodevelopmental disorder caused by the loss of paternally expressed genes in an imprinted region of chromosome 15q11.2–q13. We generated a human-induced pluripotent stem cell line, designated KSCBi009-A, from peripheral blood mononuclear cells of a 13-year-old male PWS patient exhibiting deletion of the paternal chromosome 15q11.2–q13 region. The deletion was confirmed via methylation-specific multiplex ligation probe amplification assay (MS-MLPA) of genomic DNA. The hiPSC line expressed pluripotency markers and differentiated into three germ layers. The cell line may serve as a valuable model of an imprinting PWS disorder useful in terms of drug discovery and development.