Establishment of a human induced pluripotent stem cell line, KMUGMCi004-A, from a patient bearing a heterozygous c.1832delG mutation in the APC gene leading familial adenomatous polyposis (FAP)
Familial adenomatous polyposis (FAP) is a disorder characterized by the development of numerous colorectal adenomatous polyps progressing to colorectal cancers and has been used as an important model to study the neoplasia formation. The peripheral blood mononuclear cells from a patient carrying a h...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2022-08-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506122002161 |
| _version_ | 1811343443245400064 |
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| author | Hiroki Ura Sumihito Togi Hisayo Hatanaka Yo Niida |
| author_facet | Hiroki Ura Sumihito Togi Hisayo Hatanaka Yo Niida |
| author_sort | Hiroki Ura |
| collection | DOAJ |
| description | Familial adenomatous polyposis (FAP) is a disorder characterized by the development of numerous colorectal adenomatous polyps progressing to colorectal cancers and has been used as an important model to study the neoplasia formation. The peripheral blood mononuclear cells from a patient carrying a heterozygous 1 bp deletion in Exon 17 of the APC gene were reprogrammed using the Sendai Reprogramming Kit. This frameshift mutation in APC is expected to produce an aberrant truncated protein which is responsible for FAP. The established human induced pluripotent cell line will enable proper in vitro disease modelling of FAP. |
| first_indexed | 2024-04-13T19:29:27Z |
| format | Article |
| id | doaj.art-e25c28f5340140d096b2d05311f52af8 |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-04-13T19:29:27Z |
| publishDate | 2022-08-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-e25c28f5340140d096b2d05311f52af82022-12-22T02:33:15ZengElsevierStem Cell Research1873-50612022-08-0163102867Establishment of a human induced pluripotent stem cell line, KMUGMCi004-A, from a patient bearing a heterozygous c.1832delG mutation in the APC gene leading familial adenomatous polyposis (FAP)Hiroki Ura0Sumihito Togi1Hisayo Hatanaka2Yo Niida3Center for Clinical Genomics, Kanazawa Medical University Hospital, 1-1 Daigaku, Uchinada, Kahoku, Ishikawa 920-0923, Japan; Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University, 1-1 Daigaku, Uchinada, Kahoku, Ishikawa 920-0923, Japan; Corresponding author.Center for Clinical Genomics, Kanazawa Medical University Hospital, 1-1 Daigaku, Uchinada, Kahoku, Ishikawa 920-0923, Japan; Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University, 1-1 Daigaku, Uchinada, Kahoku, Ishikawa 920-0923, JapanCenter for Clinical Genomics, Kanazawa Medical University Hospital, 1-1 Daigaku, Uchinada, Kahoku, Ishikawa 920-0923, JapanCenter for Clinical Genomics, Kanazawa Medical University Hospital, 1-1 Daigaku, Uchinada, Kahoku, Ishikawa 920-0923, Japan; Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University, 1-1 Daigaku, Uchinada, Kahoku, Ishikawa 920-0923, JapanFamilial adenomatous polyposis (FAP) is a disorder characterized by the development of numerous colorectal adenomatous polyps progressing to colorectal cancers and has been used as an important model to study the neoplasia formation. The peripheral blood mononuclear cells from a patient carrying a heterozygous 1 bp deletion in Exon 17 of the APC gene were reprogrammed using the Sendai Reprogramming Kit. This frameshift mutation in APC is expected to produce an aberrant truncated protein which is responsible for FAP. The established human induced pluripotent cell line will enable proper in vitro disease modelling of FAP.http://www.sciencedirect.com/science/article/pii/S1873506122002161 |
| spellingShingle | Hiroki Ura Sumihito Togi Hisayo Hatanaka Yo Niida Establishment of a human induced pluripotent stem cell line, KMUGMCi004-A, from a patient bearing a heterozygous c.1832delG mutation in the APC gene leading familial adenomatous polyposis (FAP) Stem Cell Research |
| title | Establishment of a human induced pluripotent stem cell line, KMUGMCi004-A, from a patient bearing a heterozygous c.1832delG mutation in the APC gene leading familial adenomatous polyposis (FAP) |
| title_full | Establishment of a human induced pluripotent stem cell line, KMUGMCi004-A, from a patient bearing a heterozygous c.1832delG mutation in the APC gene leading familial adenomatous polyposis (FAP) |
| title_fullStr | Establishment of a human induced pluripotent stem cell line, KMUGMCi004-A, from a patient bearing a heterozygous c.1832delG mutation in the APC gene leading familial adenomatous polyposis (FAP) |
| title_full_unstemmed | Establishment of a human induced pluripotent stem cell line, KMUGMCi004-A, from a patient bearing a heterozygous c.1832delG mutation in the APC gene leading familial adenomatous polyposis (FAP) |
| title_short | Establishment of a human induced pluripotent stem cell line, KMUGMCi004-A, from a patient bearing a heterozygous c.1832delG mutation in the APC gene leading familial adenomatous polyposis (FAP) |
| title_sort | establishment of a human induced pluripotent stem cell line kmugmci004 a from a patient bearing a heterozygous c 1832delg mutation in the apc gene leading familial adenomatous polyposis fap |
| url | http://www.sciencedirect.com/science/article/pii/S1873506122002161 |
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