| Item type |
リポジトリ登録用アイテムタイプ（シンプル）(1) |
| 公開日 |
2025-03-27 |
| タイトル |
|
|
タイトル |
Heterozygous troponin T-K210 del mutant iPSCs generated from a patient with familial dilated cardiomyopathy and CRISPR-Cas9 genome editing experiment |
|
言語 |
en |
| 言語 |
|
|
言語 |
eng |
| キーワード |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
Dilated cardiomyopathy9 system |
| キーワード |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
Induced pluripotent stem cells |
| キーワード |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
Troponin T mutation |
| キーワード |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
CRISPR-Cas9 system |
| 資源タイプ |
|
|
資源タイプ識別子 |
http://purl.org/coar/resource_type/c_6501 |
|
資源タイプ |
journal article |
| アクセス権 |
|
|
アクセス権 |
open access |
|
アクセス権URI |
http://purl.org/coar/access_right/c_abf2 |
| 著者 |
Iwasaki, Toshihiro
Shibutani, Shuji
Chiba, Motoki
Hiyama, Mei
Umezaki, Hitoshi
Hirosawa, Shun
Kato, Kazufumi
Konno, Yuki
Tomita, Hirofumi
|
| 抄録 |
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内容記述タイプ |
Abstract |
|
内容記述 |
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.
Methods 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.
Conclusions: 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. |
|
言語 |
en |
| 書誌情報 |
ja : 弘前医学
en : Hirosaki Medical Journal
巻 75,
号 2-4,
p. 155-163,
発行日 2025-03-10
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| ISSN |
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収録物識別子タイプ |
EISSN |
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収録物識別子 |
2434-4656 |
| 書誌レコードID |
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|
収録物識別子タイプ |
NCID |
|
収録物識別子 |
AN00211444 |
| 出版タイプ |
|
|
出版タイプ |
VoR |
|
出版タイプResource |
http://purl.org/coar/version/c_970fb48d4fbd8a85 |
| 出版者 |
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|
出版者 |
弘前大学大学院医学研究科 |
|
言語 |
ja |
Hirosaki Med J 75-2-4_155.pdf (950 KB)
