https://scholars.lib.ntu.edu.tw/handle/123456789/519988| DC Field | Value | Language |
|---|---|---|
| dc.contributor.author | Ou-Yang C.-H. | en_US |
| dc.contributor.author | Lin H.-Y. | en_US |
| dc.contributor.author | Huang C.-Y. | en_US |
| dc.contributor.author | CHIN-HSIEN LIN | en_US |
| dc.creator | Ou-Yang C.-H.;Lin H.-Y.;Huang C.-Y.;Chin-Hsien Lin | - |
| dc.date.accessioned | 2020-11-03T12:12:32Z | - |
| dc.date.available | 2020-11-03T12:12:32Z | - |
| dc.date.issued | 2020 | - |
| dc.identifier.issn | 1873-5061 | - |
| dc.identifier.uri | https://www.scopus.com/inward/record.uri?eid=2-s2.0-85092468971&doi=10.1016%2fj.scr.2020.102031&partnerID=40&md5=836ae556c36e094cccf7e056a79f33a7 | - |
| dc.identifier.uri | https://scholars.lib.ntu.edu.tw/handle/123456789/519988 | - |
| dc.description.abstract | A novel missense mutation, c.941A > C (p.Y314S), in mitochondrial ubiquinol-cytochrome c reductase core protein I (UQCRC1) gene, was recently identified in a family with autosomal-dominant late-onset parkinsonism and polyneuropathy. UQCRC1 encodes a mitochondria respiratory complex III protein. Mutant UQCRC1 cells showed decreased mitochondrial activity and neurite degeneration. Here, we used the Sendai virus delivery system to generate induced pluripotent stem cells (iPSCs) from peripheral blood mononuclear cells of a male patient having a heterozygous UQCRC1 p.Y314S mutation. The established iPSCs could differentiate into three germ layers in vivo. This cellular model provides a platform for further studies of UQCRC1-related parkinsonism and polyneuropathy. ? 2020 The Author(s) | - |
| dc.publisher | Elsevier B.V. | - |
| dc.relation.ispartof | Stem Cell Research | - |
| dc.subject.other | mutant protein; succinate dehydrogenase (ubiquinone); ubiquinol cytochrome c reductase; aged; animal experiment; animal model; animal tissue; Article; cell differentiation; controlled study; familial disease; gene; gene mutation; germ layer; heterozygote; human; human cell; induced pluripotent stem cell; male; missense mutation; mitochondrion; mouse; neurite; nonhuman; parkinsonism; peripheral blood mononuclear cell; polyneuropathy; priority journal; Sendai virus; uqcrc1 gene | - |
| dc.subject.other | [SDGs]SDG3 | - |
| dc.title | Generation of a human induced pluripotent stem cell (iPSC) line (IBMS-iPSC-057-05) from a patient with familial parkinsonism and polyneuropathy having a heterozygous p.Y314S mutation in UQCRC1 gene | en_US |
| dc.type | journal article | - |
| dc.identifier.doi | 10.1016/j.scr.2020.102031 | - |
| dc.identifier.scopus | 2-s2.0-85092468971 | - |
| dc.relation.journalvolume | 49 | - |
| item.openairetype | journal article | - |
| item.fulltext | no fulltext | - |
| item.grantfulltext | none | - |
| item.openairecristype | http://purl.org/coar/resource_type/c_6501 | - |
| item.cerifentitytype | Publications | - |
| crisitem.author.dept | Neurology-NTUH | - |
| crisitem.author.dept | Neurology | - |
| crisitem.author.dept | The Clinical Center for Neuroscience and Behavior | - |
| crisitem.author.orcid | 0000-0001-8566-7573 | - |
| crisitem.author.parentorg | National Taiwan University Hospital | - |
| crisitem.author.parentorg | College of Medicine | - |
| crisitem.author.parentorg | National Taiwan University Hospital | - |
| Appears in Collections: | 醫學系 | |
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.
