Generation of an induced pluripotent stem cell line (ICNDXHi001-A) from a patient with frontotemporal dementia carrying a heterozygous mutation c.796C > G (p.L266V) in MAPT
Frontotemporal dementia (FTD) caused by microtubule-associated protein tau (MAPT) mutations is not rare and is almost fully penetrant. However, no disease-modifying treatment for FTD is currently available. Here, we demonstrated the establishment and characterization of a novel human induced pluripo...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2022-03-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506122000034 |
| _version_ | 1818954784114212864 |
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| author | Huimin Cai Yana Pang Longfei Jia |
| author_facet | Huimin Cai Yana Pang Longfei Jia |
| author_sort | Huimin Cai |
| collection | DOAJ |
| description | Frontotemporal dementia (FTD) caused by microtubule-associated protein tau (MAPT) mutations is not rare and is almost fully penetrant. However, no disease-modifying treatment for FTD is currently available. Here, we demonstrated the establishment and characterization of a novel human induced pluripotent stem cell (iPSC) line ICNDXHi001-A from a patient with FTD carrying genetic variant MAPT c.796C > G (p.L266V). The generated cell line showed trilineage differentiation potential, expression of pluripotency markers, a normal karyotype, and retention of MAPT mutation. The study provides a useful model to further elucidate the underlying mechanisms of FTD and to facilitate novel therapy development. |
| first_indexed | 2024-12-20T10:27:40Z |
| format | Article |
| id | doaj.art-78d5d81d17174822b679229ed8c59ed6 |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-12-20T10:27:40Z |
| publishDate | 2022-03-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-78d5d81d17174822b679229ed8c59ed62022-12-21T19:43:47ZengElsevierStem Cell Research1873-50612022-03-0159102654Generation of an induced pluripotent stem cell line (ICNDXHi001-A) from a patient with frontotemporal dementia carrying a heterozygous mutation c.796C > G (p.L266V) in MAPTHuimin Cai0Yana Pang1Longfei Jia2Innovation Center for Neurological Disorders and Department of Neurology, Xuanwu Hospital, Capital Medical University, National Clinical Research Center for Geriatric Diseases, Beijing, ChinaInnovation Center for Neurological Disorders and Department of Neurology, Xuanwu Hospital, Capital Medical University, National Clinical Research Center for Geriatric Diseases, Beijing, ChinaCorresponding author at: Innovation Center for Neurological Disorders and Department of Neurology, Xuanwu Hospital, Capital Medical University, National Clinical Research Center for Geriatric Diseases, 45 Changchun St., Beijing 100000, China.; Innovation Center for Neurological Disorders and Department of Neurology, Xuanwu Hospital, Capital Medical University, National Clinical Research Center for Geriatric Diseases, Beijing, ChinaFrontotemporal dementia (FTD) caused by microtubule-associated protein tau (MAPT) mutations is not rare and is almost fully penetrant. However, no disease-modifying treatment for FTD is currently available. Here, we demonstrated the establishment and characterization of a novel human induced pluripotent stem cell (iPSC) line ICNDXHi001-A from a patient with FTD carrying genetic variant MAPT c.796C > G (p.L266V). The generated cell line showed trilineage differentiation potential, expression of pluripotency markers, a normal karyotype, and retention of MAPT mutation. The study provides a useful model to further elucidate the underlying mechanisms of FTD and to facilitate novel therapy development.http://www.sciencedirect.com/science/article/pii/S1873506122000034 |
| spellingShingle | Huimin Cai Yana Pang Longfei Jia Generation of an induced pluripotent stem cell line (ICNDXHi001-A) from a patient with frontotemporal dementia carrying a heterozygous mutation c.796C > G (p.L266V) in MAPT Stem Cell Research |
| title | Generation of an induced pluripotent stem cell line (ICNDXHi001-A) from a patient with frontotemporal dementia carrying a heterozygous mutation c.796C > G (p.L266V) in MAPT |
| title_full | Generation of an induced pluripotent stem cell line (ICNDXHi001-A) from a patient with frontotemporal dementia carrying a heterozygous mutation c.796C > G (p.L266V) in MAPT |
| title_fullStr | Generation of an induced pluripotent stem cell line (ICNDXHi001-A) from a patient with frontotemporal dementia carrying a heterozygous mutation c.796C > G (p.L266V) in MAPT |
| title_full_unstemmed | Generation of an induced pluripotent stem cell line (ICNDXHi001-A) from a patient with frontotemporal dementia carrying a heterozygous mutation c.796C > G (p.L266V) in MAPT |
| title_short | Generation of an induced pluripotent stem cell line (ICNDXHi001-A) from a patient with frontotemporal dementia carrying a heterozygous mutation c.796C > G (p.L266V) in MAPT |
| title_sort | generation of an induced pluripotent stem cell line icndxhi001 a from a patient with frontotemporal dementia carrying a heterozygous mutation c 796c g p l266v in mapt |
| url | http://www.sciencedirect.com/science/article/pii/S1873506122000034 |
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