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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)
DC Field | Value | Language |
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dc.contributor.author | 이진성 | - |
dc.date.accessioned | 2022-08-19T06:30:57Z | - |
dc.date.available | 2022-08-19T06:30:57Z | - |
dc.date.issued | 2019-12 | - |
dc.identifier.issn | 1873-5061 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/189241 | - |
dc.description.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. | - |
dc.description.statementOfResponsibility | open | - |
dc.language | English | - |
dc.publisher | Elsevier | - |
dc.relation.isPartOf | STEM CELL RESEARCH | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.subject.MESH | Cell Line | - |
dc.subject.MESH | Female | - |
dc.subject.MESH | Humans | - |
dc.subject.MESH | Induced Pluripotent Stem Cells / pathology* | - |
dc.subject.MESH | Infant | - |
dc.subject.MESH | Prader-Willi Syndrome / pathology* | - |
dc.subject.MESH | Reproducibility of Results | - |
dc.subject.MESH | Uniparental Disomy / pathology* | - |
dc.title | Generation of patient-specific induced pluripotent stem cells (KSCBi007-A) derived from a patient with Prader-Willi syndrome retain maternal uniparental disomy (UPD) | - |
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 | Mi-Hyun Park | - |
dc.contributor.googleauthor | Soo Kyung Koo | - |
dc.identifier.doi | 10.1016/j.scr.2019.101647 | - |
dc.contributor.localId | A03227 | - |
dc.relation.journalcode | J02680 | - |
dc.identifier.eissn | 1876-7753 | - |
dc.identifier.pmid | 31756696 | - |
dc.contributor.alternativeName | Lee, Jin Sung | - |
dc.contributor.affiliatedAuthor | 이진성 | - |
dc.citation.volume | 41 | - |
dc.citation.startPage | 101647 | - |
dc.identifier.bibliographicCitation | STEM CELL RESEARCH, Vol.41 : 101647, 2019-12 | - |
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