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

Authors
 Bo-Young Kim  ;  Jin-Sung Lee  ;  Yong-Ou Kim  ;  Mi-Hyun Park  ;  Soo Kyung Koo 
Citation
 STEM CELL RESEARCH, Vol.41 : 101647, 2019-12 
Journal Title
STEM CELL RESEARCH
ISSN
 1873-5061 
Issue Date
2019-12
MeSH
Cell Line ; Female ; Humans ; Induced Pluripotent Stem Cells / pathology* ; Infant ; Prader-Willi Syndrome / pathology* ; Reproducibility of Results ; Uniparental Disomy / pathology*
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.
Files in This Item:
T9992019239.pdf Download
DOI
10.1016/j.scr.2019.101647
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아과학교실) > 1. Journal Papers
Yonsei Authors
Lee, Jin-Sung(이진성) ORCID logo https://orcid.org/0000-0002-1262-8597
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/189241
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