Stem Cell Research, 2019. 41, 101647-, DOI: https://doi.org/10.1016/j.scr.2019.101647

Generation of a patient-specific induced pluripotent stem cells (KSCBi007-A) derived from a patient with Pradar-Willi syndrome retain maternal uniparental disomy (UPD)

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

Abstract

Prader-Willi syndrome (PWS) is a neurodevelopmental disorder caused by loss of paternally expressed genes in an imprinted region of 15q11.2-q13. We established a human-induced pluripotent stem cell (hiPSC) line, KSCBi007-A, from the peripheral blood mononuclear cells of a 5-month-old girl with PWS that retained maternal uniparental disomy (UPD). Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) of genomic DNA revealed the maternal UPD in the hiPSCs. The generated hiPSC line expressed pluripotency markers and showed the ability to differentiate into three germ layers in vitro. This hiPSC line could be used as a cellular model of an imprinting disorder in humans.

• DOI: https://doi.org/10.1016/j.scr.2019.101647
• ISBN or ISSN: 1873-5061

• 본 연구는 질병관리본부 연구개발과제연구비를 지원받아 수행되었습니다.
• This research was supported by a fund by Research of Korea Centers for Disease Control and Prevention.