{"created":"2025-03-27T06:45:09.980061+00:00","id":2000781,"links":{},"metadata":{"_buckets":{"deposit":"70657988-e71e-4991-9586-f87b343703d7"},"_deposit":{"created_by":11,"id":"2000781","owner":"11","owners":[11],"pid":{"revision_id":0,"type":"depid","value":"2000781"},"status":"published"},"_oai":{"id":"oai:hirosaki.repo.nii.ac.jp:02000781","sets":["557:561:1738902869384"]},"author_link":[],"control_number":"2000781","item_1735019115310":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"Background: The advent of clustered regularly interspaced short palindromic repeats/CRISPR-associated protein 9 （CRISPR-Cas9） system has markedly accelerated research employing induced pluripotent stem cells （iPSCs） for the analysis of gene function and gene therapy. In this study, we performed exome sequencing to identify genetic mutations in patients with familial dilated cardiomyopathy （DCM）. Subsequently, we generated iPSCs from the patient and performed genome editing experiment using the CRISPR-Cas9 system.\nMethods and Results: Exome sequencing was conducted on genomic DNA extracted from two siblings with familial DCM. The results revealed the presence of the heterozygous troponin T （TnT）-K210 del mutation （ΔK210/WT）in both individuals. One of the patients’ peripheral blood mononuclear cells were reprogrammed into iPSCs through electroporation of episomal plasmids encoding the reprogramming genes. The ΔK210/WT iPSCs were successfully differentiated into cardiomyocytes. Despite the generation of homozygous TnT-K210 del mutant （ΔK210/ΔK210）iPSCs using the CRISPR-Cas9 system, the ΔK210/WT iPSCs could not be repaired into the WT/WT iPSCs.\nConclusions: The TnT-ΔK210/WT was detected in patients with DCM, and iPSCs were generated. The CRISPRCas9 system was employed to successfully generate the ΔK210/ΔK210 iPSCs, but not the WT/WT iPSCs from the ΔK210/WT iPSCs. Further studies are necessary to generate WT/WT, ΔK210/WT, and ΔK210/ΔK210 iPSCs.","subitem_description_language":"en","subitem_description_type":"Abstract"}]},"item_1735019314753":{"attribute_name":"書誌レコードID","attribute_value_mlt":[{"subitem_source_identifier":"AN00211444","subitem_source_identifier_type":"NCID"}]},"item_30001_access_rights4":{"attribute_name":"アクセス権","attribute_value_mlt":[{"subitem_access_right":"open access","subitem_access_right_uri":"http://purl.org/coar/access_right/c_abf2"}]},"item_30001_bibliographic_information17":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2025-03-10","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"2-4","bibliographicPageEnd":"163","bibliographicPageStart":"155","bibliographicVolumeNumber":"75","bibliographic_titles":[{"bibliographic_title":"弘前医学","bibliographic_titleLang":"ja"}]}]},"item_30001_creator2":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"Toshihiro, Iwasaki","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Shuji, Shibutani","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Motoki, Chiba","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Mei, Hiyama","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Hitoshi, Umezaki","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Shun, Hirosawa","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Kazufumi, Kato","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Yuki, Konno","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Hirofumi, Tomita","creatorNameLang":"en"}]}]},"item_30001_file22":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_access","date":[{"dateType":"Available","dateValue":"2025-03-27"}],"filename":"Hirosaki Med J 75-2-4_155.pdf","filesize":[{"value":"950 KB"}],"format":"application/pdf","mimetype":"application/pdf","url":{"objectType":"fulltext","url":"https://hirosaki.repo.nii.ac.jp/record/2000781/files/Hirosaki Med J 75-2-4_155.pdf"},"version_id":"ba647b5b-76b1-4b1d-8008-3e1816c4331c"}]},"item_30001_language10":{"attribute_name":"言語","attribute_value_mlt":[{"subitem_language":"eng"}]},"item_30001_publisher9":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"弘前大学大学院医学研究科","subitem_publisher_language":"en"}]},"item_30001_resource_type11":{"attribute_name":"資源タイプ","attribute_value_mlt":[{"resourcetype":"journal article","resourceuri":"http://purl.org/coar/resource_type/c_6501"}]},"item_30001_source_identifier16":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"2434-4656","subitem_source_identifier_type":"EISSN"}]},"item_30001_subject7":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"Dilated cardiomyopathy9 system","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"Induced pluripotent stem cells","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"Troponin T mutation","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"CRISPR-Cas9 system","subitem_subject_language":"en","subitem_subject_scheme":"Other"}]},"item_30001_title0":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"Heterozygous troponin T-K210 del mutant iPSCs generated from a patient with familial dilated cardiomyopathy and CRISPR-Cas9 genome editing experiment","subitem_title_language":"en"}]},"item_30001_version_type12":{"attribute_name":"出版タイプ","attribute_value_mlt":[{"subitem_version_resource":"http://purl.org/coar/version/c_970fb48d4fbd8a85","subitem_version_type":"VoR"}]},"item_title":"Heterozygous troponin T-K210 del mutant iPSCs generated from a patient with familial dilated cardiomyopathy and CRISPR-Cas9 genome editing experiment","item_type_id":"40034","owner":"11","path":["1738902869384"],"pubdate":{"attribute_name":"PubDate","attribute_value":"2025-03-27"},"publish_date":"2025-03-27","publish_status":"0","recid":"2000781","relation_version_is_last":true,"title":["Heterozygous troponin T-K210 del mutant iPSCs generated from a patient with familial dilated cardiomyopathy and CRISPR-Cas9 genome editing experiment"],"weko_creator_id":"11","weko_shared_id":-1},"updated":"2025-06-06T00:43:34.204769+00:00"}