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

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

doi:10.1016/j.scr.2019.101647

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

Stem Cell Res. 2019 Dec:41:101647. doi: 10.1016/j.scr.2019.101647. Epub 2019 Nov 2.

Authors

Bo-Young Kim¹, Jin-Sung Lee², Yong-Ou Kim¹, Mi-Hyun Park³, Soo Kyung Koo⁴

Affiliations

¹ Division of Intractable Diseases, National Center for Stem Cell and Regenerative Medicine, Center for Biomedical Sciences, Korea National Institute of Health, Korea Centers for Disease Control and Prevention Cheongju-si, South Korea.
² Division of Clinical Genetics, Department of Pediatrics, Severance Children's Hospital, Yonsei University College of Medicine, South Korea.
³ Division of Intractable Diseases, National Center for Stem Cell and Regenerative Medicine, Center for Biomedical Sciences, Korea National Institute of Health, Korea Centers for Disease Control and Prevention Cheongju-si, South Korea. Electronic address: mihyun4868@korea.kr.
⁴ Division of Intractable Diseases, National Center for Stem Cell and Regenerative Medicine, Center for Biomedical Sciences, Korea National Institute of Health, Korea Centers for Disease Control and Prevention Cheongju-si, South Korea. Electronic address: skkoo@korea.kr.

PMID: 31756696
DOI: 10.1016/j.scr.2019.101647

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Cell Line
Female
Humans
Induced Pluripotent Stem Cells / pathology*
Infant
Prader-Willi Syndrome / pathology*
Reproducibility of Results
Uniparental Disomy / pathology*