Cited 0 times in
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
DC Field | Value | Language |
---|---|---|
dc.contributor.author | 이진성 | - |
dc.contributor.author | 허규하 | - |
dc.date.accessioned | 2021-09-29T02:29:17Z | - |
dc.date.available | 2021-09-29T02:29:17Z | - |
dc.date.issued | 2020-07 | - |
dc.identifier.issn | 1873-5061 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/184930 | - |
dc.description.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. | - |
dc.description.statementOfResponsibility | open | - |
dc.format | application/pdf | - |
dc.language | English | - |
dc.publisher | Elsevier | - |
dc.relation.isPartOf | STEM CELL RESEARCH | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.subject.MESH | Adolescent | - |
dc.subject.MESH | Chromosomes | - |
dc.subject.MESH | Chromosomes, Human, Pair 15 / genetics | - |
dc.subject.MESH | DNA Methylation / genetics | - |
dc.subject.MESH | Genomic Imprinting | - |
dc.subject.MESH | Humans | - |
dc.subject.MESH | Induced Pluripotent Stem Cells* | - |
dc.subject.MESH | Leukocytes, Mononuclear | - |
dc.subject.MESH | Male | - |
dc.subject.MESH | Prader-Willi Syndrome* / genetics | - |
dc.title | 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 | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Pediatrics (소아과학교실) | - |
dc.contributor.googleauthor | Bo-Young Kim | - |
dc.contributor.googleauthor | Jin-Sung Lee | - |
dc.contributor.googleauthor | Yong-Ou Kim | - |
dc.contributor.googleauthor | Soo Kyung Koo | - |
dc.contributor.googleauthor | Mi-Hyun Park | - |
dc.identifier.doi | 10.1016/j.scr.2020.101847 | - |
dc.contributor.localId | A03227 | - |
dc.contributor.localId | A04344 | - |
dc.contributor.localId | A06130 | - |
dc.relation.journalcode | J02680 | - |
dc.identifier.eissn | 1876-7753 | - |
dc.identifier.pmid | 32474395 | - |
dc.contributor.alternativeName | Lee, Jin Sung | - |
dc.contributor.affiliatedAuthor | 이진성 | - |
dc.contributor.affiliatedAuthor | 허규하 | - |
dc.citation.volume | 46 | - |
dc.citation.startPage | 101847 | - |
dc.identifier.bibliographicCitation | STEM CELL RESEARCH, Vol.46 : 101847, 2020-07 | - |
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.