Establishment of an induced pluripotent stem cell line from a patient with CHARGE syndrome carrying a CHD7 (p.L1151Gfs*17) mutation
CHARGE syndrome is a rare disease caused by a genetic disorder. The clinical features of this syndrome include coloboma of the eye, heart anomaly, choanal atresia, retardation of mental and somatic development, microphallus, ear abnormalities and/or deafness. CHD7 is the main causative gene for CHAR...
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| Format: | Article |
| Language: | English |
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Elsevier
2020-05-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506120300787 |
| _version_ | 1818292017629757440 |
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| author | Shouhuan He Jintao Hu Zhong Zheng Jingjing Wang Jianling Chen Cui Zhang Liang Li Jiping Wang Zhengnong Chen Haibo Shi Jinfu Wang |
| author_facet | Shouhuan He Jintao Hu Zhong Zheng Jingjing Wang Jianling Chen Cui Zhang Liang Li Jiping Wang Zhengnong Chen Haibo Shi Jinfu Wang |
| author_sort | Shouhuan He |
| collection | DOAJ |
| description | CHARGE syndrome is a rare disease caused by a genetic disorder. The clinical features of this syndrome include coloboma of the eye, heart anomaly, choanal atresia, retardation of mental and somatic development, microphallus, ear abnormalities and/or deafness. CHD7 is the main causative gene for CHARGE syndrome. In this study, we generated an induced pluripotent stem cell (iPSC) line from the dermal fibroblasts of a 1.5-year-old girl, carrying a de novo mutation (CHD7;NM_017780;c.3449_3450delTC;p.L1151Gfs*17). This iPSC line will be a useful tool for investigating the pathogenesis and for developing treatment for this complicated syndrome. |
| first_indexed | 2024-12-13T02:53:16Z |
| format | Article |
| id | doaj.art-e778ddd8697c4e7e8d64158ca75e547d |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-12-13T02:53:16Z |
| publishDate | 2020-05-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-e778ddd8697c4e7e8d64158ca75e547d2022-12-22T00:02:01ZengElsevierStem Cell Research1873-50612020-05-0145Establishment of an induced pluripotent stem cell line from a patient with CHARGE syndrome carrying a CHD7 (p.L1151Gfs*17) mutationShouhuan He0Jintao Hu1Zhong Zheng2Jingjing Wang3Jianling Chen4Cui Zhang5Liang Li6Jiping Wang7Zhengnong Chen8Haibo Shi9Jinfu Wang10Department of Otolaryngology, Qingpu Branch of Zhongshan Hospital Affiliated to Fudan University, Shanghai 201700, ChinaThe Third Clinical Medical College, Zhejiang Chinese Medical University, Hangzhou 310053, China; Department of Orthopedics, Hangzhou Xiaoshan District Chinese Medicine Hospital, Hangzhou 311200, ChinaDepartment of Otolaryngology-Head and Neck Surgery, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai 200233, China; Otolaryngology Institute, Shanghai Jiao Tong University, Shanghai 200233, ChinaDepartment of Otolaryngology-Head and Neck Surgery, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai 200233, China; Otolaryngology Institute, Shanghai Jiao Tong University, Shanghai 200233, ChinaLaboratory of Stem Cells, Institute of Cell Biology, College of Life Sciences, Zhejiang University, Hangzhou, Zhejiang 310058, ChinaLaboratory of Stem Cells, Institute of Cell Biology, College of Life Sciences, Zhejiang University, Hangzhou, Zhejiang 310058, ChinaLaboratory of Stem Cells, Institute of Cell Biology, College of Life Sciences, Zhejiang University, Hangzhou, Zhejiang 310058, ChinaDepartment of Otolaryngology-Head and Neck Surgery, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai 200233, China; Otolaryngology Institute, Shanghai Jiao Tong University, Shanghai 200233, China; Corresponding authors at: Department of Otolaryngology-Head and Neck Surgery, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai 200233, China.Department of Otolaryngology-Head and Neck Surgery, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai 200233, China; Otolaryngology Institute, Shanghai Jiao Tong University, Shanghai 200233, China; Corresponding authors at: Department of Otolaryngology-Head and Neck Surgery, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai 200233, China.Department of Otolaryngology-Head and Neck Surgery, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai 200233, China; Otolaryngology Institute, Shanghai Jiao Tong University, Shanghai 200233, China; Shanghai Key Laboratory of Sleep Disordered Breathing, Shanghai 200233, ChinaLaboratory of Stem Cells, Institute of Cell Biology, College of Life Sciences, Zhejiang University, Hangzhou, Zhejiang 310058, ChinaCHARGE syndrome is a rare disease caused by a genetic disorder. The clinical features of this syndrome include coloboma of the eye, heart anomaly, choanal atresia, retardation of mental and somatic development, microphallus, ear abnormalities and/or deafness. CHD7 is the main causative gene for CHARGE syndrome. In this study, we generated an induced pluripotent stem cell (iPSC) line from the dermal fibroblasts of a 1.5-year-old girl, carrying a de novo mutation (CHD7;NM_017780;c.3449_3450delTC;p.L1151Gfs*17). This iPSC line will be a useful tool for investigating the pathogenesis and for developing treatment for this complicated syndrome.http://www.sciencedirect.com/science/article/pii/S1873506120300787 |
| spellingShingle | Shouhuan He Jintao Hu Zhong Zheng Jingjing Wang Jianling Chen Cui Zhang Liang Li Jiping Wang Zhengnong Chen Haibo Shi Jinfu Wang Establishment of an induced pluripotent stem cell line from a patient with CHARGE syndrome carrying a CHD7 (p.L1151Gfs*17) mutation Stem Cell Research |
| title | Establishment of an induced pluripotent stem cell line from a patient with CHARGE syndrome carrying a CHD7 (p.L1151Gfs*17) mutation |
| title_full | Establishment of an induced pluripotent stem cell line from a patient with CHARGE syndrome carrying a CHD7 (p.L1151Gfs*17) mutation |
| title_fullStr | Establishment of an induced pluripotent stem cell line from a patient with CHARGE syndrome carrying a CHD7 (p.L1151Gfs*17) mutation |
| title_full_unstemmed | Establishment of an induced pluripotent stem cell line from a patient with CHARGE syndrome carrying a CHD7 (p.L1151Gfs*17) mutation |
| title_short | Establishment of an induced pluripotent stem cell line from a patient with CHARGE syndrome carrying a CHD7 (p.L1151Gfs*17) mutation |
| title_sort | establishment of an induced pluripotent stem cell line from a patient with charge syndrome carrying a chd7 p l1151gfs 17 mutation |
| url | http://www.sciencedirect.com/science/article/pii/S1873506120300787 |
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