Generation of a human induced pluripotent stem cell line PUMCHi017-A from a Choroideremia patient with CHM mutation
Choroideremia (CHM) is a rare monogenic, X-linked recessive inherited chorioretinal dystrophy caused by loss of function variants in the CHM gene. We successfully generated a novel human induced pluripotent stem cell (hiPSC) line from a CHM patient with CHM variant using the Sendai-virus based appro...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2022-03-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506122000101 |
| _version_ | 1798024655548710912 |
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| author | Xiaoxu Han Shijing Wu Zixi Sun Tian Zhu Xing Wei Xuan Zou Ruifang Sui |
| author_facet | Xiaoxu Han Shijing Wu Zixi Sun Tian Zhu Xing Wei Xuan Zou Ruifang Sui |
| author_sort | Xiaoxu Han |
| collection | DOAJ |
| description | Choroideremia (CHM) is a rare monogenic, X-linked recessive inherited chorioretinal dystrophy caused by loss of function variants in the CHM gene. We successfully generated a novel human induced pluripotent stem cell (hiPSC) line from a CHM patient with CHM variant using the Sendai-virus based approach. These cells will provide a disease model for further studies on the disease pathogenesis and potential interventions. |
| first_indexed | 2024-04-11T18:06:10Z |
| format | Article |
| id | doaj.art-37f611c9aa594d388113a0c4ce1243ed |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-04-11T18:06:10Z |
| publishDate | 2022-03-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-37f611c9aa594d388113a0c4ce1243ed2022-12-22T04:10:19ZengElsevierStem Cell Research1873-50612022-03-0159102661Generation of a human induced pluripotent stem cell line PUMCHi017-A from a Choroideremia patient with CHM mutationXiaoxu Han0Shijing Wu1Zixi Sun2Tian Zhu3Xing Wei4Xuan Zou5Ruifang Sui6Department of Ophthalmology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, ChinaDepartment of Ophthalmology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, ChinaDepartment of Ophthalmology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, ChinaDepartment of Ophthalmology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, ChinaDepartment of Ophthalmology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, ChinaDepartment of Ophthalmology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, ChinaCorresponding author at: Department of Ophthalmology, Peking Union Medical College Hospital, 1 Shuai Fu Yuan, Beijing 100730, China.; Department of Ophthalmology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, ChinaChoroideremia (CHM) is a rare monogenic, X-linked recessive inherited chorioretinal dystrophy caused by loss of function variants in the CHM gene. We successfully generated a novel human induced pluripotent stem cell (hiPSC) line from a CHM patient with CHM variant using the Sendai-virus based approach. These cells will provide a disease model for further studies on the disease pathogenesis and potential interventions.http://www.sciencedirect.com/science/article/pii/S1873506122000101 |
| spellingShingle | Xiaoxu Han Shijing Wu Zixi Sun Tian Zhu Xing Wei Xuan Zou Ruifang Sui Generation of a human induced pluripotent stem cell line PUMCHi017-A from a Choroideremia patient with CHM mutation Stem Cell Research |
| title | Generation of a human induced pluripotent stem cell line PUMCHi017-A from a Choroideremia patient with CHM mutation |
| title_full | Generation of a human induced pluripotent stem cell line PUMCHi017-A from a Choroideremia patient with CHM mutation |
| title_fullStr | Generation of a human induced pluripotent stem cell line PUMCHi017-A from a Choroideremia patient with CHM mutation |
| title_full_unstemmed | Generation of a human induced pluripotent stem cell line PUMCHi017-A from a Choroideremia patient with CHM mutation |
| title_short | Generation of a human induced pluripotent stem cell line PUMCHi017-A from a Choroideremia patient with CHM mutation |
| title_sort | generation of a human induced pluripotent stem cell line pumchi017 a from a choroideremia patient with chm mutation |
| url | http://www.sciencedirect.com/science/article/pii/S1873506122000101 |
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