Establishment of an induced pluripotent stem cell line PUMCHi004-A from a hereditary transthyretin amyloid cardiomyopathy patient with transthyretin (TTR) p.Asp38Asn mutation
Hereditary transthyretin amyloid cardiomyopathy is cardiac involvement in systemic transthyretin amyloidosis. For the first time, we generated induced pluripotent stem cell (iPSC) line of hATTR-CM carrying the TTR mutation p.Asp38Asn. We isolated peripheral blood mononuclear cells from the patient’s...
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| Format: | Article |
| Language: | English |
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Elsevier
2020-12-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506120303238 |
| _version_ | 1819203493203804160 |
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| author | Shan He Ye Jin Zhuang Tian TianRui Hua HaiPing Xing ShengSheng Zhuang XinYue He HanYu Li Lun Wang ShuYang Zhang |
| author_facet | Shan He Ye Jin Zhuang Tian TianRui Hua HaiPing Xing ShengSheng Zhuang XinYue He HanYu Li Lun Wang ShuYang Zhang |
| author_sort | Shan He |
| collection | DOAJ |
| description | Hereditary transthyretin amyloid cardiomyopathy is cardiac involvement in systemic transthyretin amyloidosis. For the first time, we generated induced pluripotent stem cell (iPSC) line of hATTR-CM carrying the TTR mutation p.Asp38Asn. We isolated peripheral blood mononuclear cells from the patient’s peripheral blood. The reprogramming of PBMCs achieved a pluripotent state by the transfection of non-integrated episomal vectors. We demonstrated pluripotency with the presence of cell surface markers, the expression of pluripotency-related genes and the ability to form teratoma composed of three germ layers in vivo. This iPSC line is a useful model for studying the pathogenic mechanism of TTR p.Asp38Asn mutation. |
| first_indexed | 2024-12-23T04:20:47Z |
| format | Article |
| id | doaj.art-b8f2b5ebe8c149a1b70a39159c6634d1 |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-12-23T04:20:47Z |
| publishDate | 2020-12-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-b8f2b5ebe8c149a1b70a39159c6634d12022-12-21T18:00:15ZengElsevierStem Cell Research1873-50612020-12-0149102022Establishment of an induced pluripotent stem cell line PUMCHi004-A from a hereditary transthyretin amyloid cardiomyopathy patient with transthyretin (TTR) p.Asp38Asn mutationShan He0Ye Jin1Zhuang Tian2TianRui Hua3HaiPing Xing4ShengSheng Zhuang5XinYue He6HanYu Li7Lun Wang8ShuYang Zhang9Department of Cardiology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100005, ChinaClinical Research Laboratory, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100005, ChinaDepartment of Cardiology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100005, ChinaDepartment of Cardiology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100005, ChinaDepartment of Cardiology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100005, ChinaDepartment of Cardiology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100005, ChinaDepartment of Cardiology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100005, ChinaDepartment of Cardiology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100005, ChinaDepartment of Cardiology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100005, ChinaDepartment of Cardiology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100005, China; Correspondence author.Hereditary transthyretin amyloid cardiomyopathy is cardiac involvement in systemic transthyretin amyloidosis. For the first time, we generated induced pluripotent stem cell (iPSC) line of hATTR-CM carrying the TTR mutation p.Asp38Asn. We isolated peripheral blood mononuclear cells from the patient’s peripheral blood. The reprogramming of PBMCs achieved a pluripotent state by the transfection of non-integrated episomal vectors. We demonstrated pluripotency with the presence of cell surface markers, the expression of pluripotency-related genes and the ability to form teratoma composed of three germ layers in vivo. This iPSC line is a useful model for studying the pathogenic mechanism of TTR p.Asp38Asn mutation.http://www.sciencedirect.com/science/article/pii/S1873506120303238 |
| spellingShingle | Shan He Ye Jin Zhuang Tian TianRui Hua HaiPing Xing ShengSheng Zhuang XinYue He HanYu Li Lun Wang ShuYang Zhang Establishment of an induced pluripotent stem cell line PUMCHi004-A from a hereditary transthyretin amyloid cardiomyopathy patient with transthyretin (TTR) p.Asp38Asn mutation Stem Cell Research |
| title | Establishment of an induced pluripotent stem cell line PUMCHi004-A from a hereditary transthyretin amyloid cardiomyopathy patient with transthyretin (TTR) p.Asp38Asn mutation |
| title_full | Establishment of an induced pluripotent stem cell line PUMCHi004-A from a hereditary transthyretin amyloid cardiomyopathy patient with transthyretin (TTR) p.Asp38Asn mutation |
| title_fullStr | Establishment of an induced pluripotent stem cell line PUMCHi004-A from a hereditary transthyretin amyloid cardiomyopathy patient with transthyretin (TTR) p.Asp38Asn mutation |
| title_full_unstemmed | Establishment of an induced pluripotent stem cell line PUMCHi004-A from a hereditary transthyretin amyloid cardiomyopathy patient with transthyretin (TTR) p.Asp38Asn mutation |
| title_short | Establishment of an induced pluripotent stem cell line PUMCHi004-A from a hereditary transthyretin amyloid cardiomyopathy patient with transthyretin (TTR) p.Asp38Asn mutation |
| title_sort | establishment of an induced pluripotent stem cell line pumchi004 a from a hereditary transthyretin amyloid cardiomyopathy patient with transthyretin ttr p asp38asn mutation |
| url | http://www.sciencedirect.com/science/article/pii/S1873506120303238 |
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