https://scholars.lib.ntu.edu.tw/handle/123456789/623269
DC 欄位 | 值 | 語言 |
---|---|---|
dc.contributor.author | Chan, Yen-Hui | en_US |
dc.contributor.author | Ho, Chang-Han | en_US |
dc.contributor.author | Tsai, Cheng-Yu | en_US |
dc.contributor.author | Lu, Ying-Chang | en_US |
dc.contributor.author | PEI-HSUAN LIN | en_US |
dc.contributor.author | TA-CHING CHEN | en_US |
dc.contributor.author | YOU-TZUNG CHEN | en_US |
dc.contributor.author | Huang, Cheng-Yen | en_US |
dc.contributor.author | TIEN-CHEN LIU | en_US |
dc.contributor.author | Hsu, Chuan-Jen | en_US |
dc.contributor.author | CHEN-CHI WU | en_US |
dc.contributor.author | Hsu, Chuan-Jen | en_US |
dc.date.accessioned | 2022-09-29T08:39:36Z | - |
dc.date.available | 2022-09-29T08:39:36Z | - |
dc.date.issued | 2022-08-26 | - |
dc.identifier.issn | 18735061 | - |
dc.identifier.uri | https://scholars.lib.ntu.edu.tw/handle/123456789/623269 | - |
dc.description.abstract | Pathogenic variants of OPA1 have been associated with autosomal dominant optic atrophy (DOA), leading to optic, auditory, and other sensorineural neuropathies and myopathies. Using the Sendai virus delivery system, we generated induced pluripotent stem cells from the peripheral blood mononuclear cells of a female patient with the OPA1 pathogenic variant c.1468T>C (p.Cys490Arg). The resulting induced pluripotent stem cells exhibited a normal karyotype and pluripotency, as confirmed using immunofluorescence staining, and differentiated into three germ layers in vivo. This cellular model is a useful platform for investigating the pathogenic mechanisms of both blindness and deafness related to OPA1 variants. | en_US |
dc.language.iso | en | en_US |
dc.publisher | Elsevier B.V. | en_US |
dc.relation.ispartof | Stem Cell Research | en_US |
dc.title | Generation of induced pluripotent stem cells from a patient with hearing loss carrying OPA1 c.1468T>C (p.Cys490Arg) variant | en_US |
dc.type | journal article | en |
dc.identifier.doi | 10.1016/j.scr.2022.102903 | - |
dc.identifier.pmid | 36075118 | - |
dc.identifier.scopus | 2-s2.0-85137285640 | - |
dc.identifier.url | https://scholars.lib.ntu.edu.tw/handle/123456789/622398 | - |
dc.relation.journalvolume | 64 | en_US |
item.languageiso639-1 | en | - |
item.fulltext | no fulltext | - |
item.grantfulltext | none | - |
item.openairetype | journal article | - |
item.openairecristype | http://purl.org/coar/resource_type/c_6501 | - |
item.cerifentitytype | Publications | - |
crisitem.author.dept | Otolaryngology | - |
crisitem.author.dept | Otolaryngology-NTUH | - |
crisitem.author.dept | Ophthalmology | - |
crisitem.author.dept | Ophthalmology-NTUH | - |
crisitem.author.dept | Medical Genomics and Proteomics | - |
crisitem.author.dept | Clinical Medicine | - |
crisitem.author.dept | Center for Biotechnology | - |
crisitem.author.dept | Genome and Systems Biology Degree Program | - |
crisitem.author.dept | Otolaryngology | - |
crisitem.author.dept | Otolaryngology-NTUH | - |
crisitem.author.dept | Otolaryngology | - |
crisitem.author.dept | Otolaryngology-NTUH | - |
crisitem.author.orcid | 0000-0003-4358-6585 | - |
crisitem.author.orcid | 0000-0001-6510-3420 | - |
crisitem.author.orcid | 0000-0001-6771-5025 | - |
crisitem.author.orcid | 0000-0002-5047-2204 | - |
crisitem.author.parentorg | College of Medicine | - |
crisitem.author.parentorg | National Taiwan University Hospital | - |
crisitem.author.parentorg | College of Medicine | - |
crisitem.author.parentorg | National Taiwan University Hospital | - |
crisitem.author.parentorg | College of Medicine | - |
crisitem.author.parentorg | College of Medicine | - |
crisitem.author.parentorg | Others: University-Level Research Centers | - |
crisitem.author.parentorg | College of Life Science | - |
crisitem.author.parentorg | College of Medicine | - |
crisitem.author.parentorg | National Taiwan University Hospital | - |
crisitem.author.parentorg | College of Medicine | - |
crisitem.author.parentorg | National Taiwan University Hospital | - |
顯示於: | 基因體暨蛋白體醫學研究所 |
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