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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

Authors
 Bo-Young Kim  ;  Jin-Sung Lee  ;  Yong-Ou Kim  ;  Soo Kyung Koo  ;  Mi-Hyun Park 
Citation
 STEM CELL RESEARCH, Vol.46 : 101847, 2020-07 
Journal Title
STEM CELL RESEARCH
ISSN
 1873-5061 
Issue Date
2020-07
MeSH
Adolescent ; Chromosomes ; Chromosomes, Human, Pair 15 / genetics ; DNA Methylation / genetics ; Genomic Imprinting ; Humans ; Induced Pluripotent Stem Cells* ; Leukocytes, Mononuclear ; Male ; Prader-Willi Syndrome* / genetics
Abstract
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.
Files in This Item:
T999202171.pdf Download
DOI
10.1016/j.scr.2020.101847
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/22282913/184930
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