Reprogramming of human peripheral blood mononuclear cell (PBMC) from a patient suffering from hearing loss into iPSC line (SDQLCHi035-A) maintaining compound heterozygous variations in GJB2 gene
Mutation in the gap junction beta-2 (GJB2) gene is a main cause of autosomal-recessive nonsyndromic hearing loss (ARNSHL). The c.235delC and c.299-300del mutations are more common mutations in Chinese Han deaf patients, in which the compound heterozygous mutations of these two sites cause severe-to-...
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| Format: | Article |
| Language: | English |
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Elsevier
2021-03-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506121000349 |
| _version_ | 1818428086318792704 |
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| author | Xiaomeng Yang Ning Liu Hong Mu Yuqiang Lv Haiyan Zhang Yue Li Jingyun Guan Zhongtao Gai Yi Liu |
| author_facet | Xiaomeng Yang Ning Liu Hong Mu Yuqiang Lv Haiyan Zhang Yue Li Jingyun Guan Zhongtao Gai Yi Liu |
| author_sort | Xiaomeng Yang |
| collection | DOAJ |
| description | Mutation in the gap junction beta-2 (GJB2) gene is a main cause of autosomal-recessive nonsyndromic hearing loss (ARNSHL). The c.235delC and c.299-300del mutations are more common mutations in Chinese Han deaf patients, in which the compound heterozygous mutations of these two sites cause severe-to-profound hearing loss in a significant percentage. We established an induced pluripotent stem cell (iPSC) line from a 2-year-old boy with hearing loss, caused by compound heterozygous mutations in GJB2 (c.235delC and c.299-300del). The iPSCs was verified based on pluripotency markers and demonstrated trilineage differentiation potential in vitro. |
| first_indexed | 2024-12-14T14:56:02Z |
| format | Article |
| id | doaj.art-883227e230ae4e2e8751eb1d0ed98674 |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-12-14T14:56:02Z |
| publishDate | 2021-03-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-883227e230ae4e2e8751eb1d0ed986742022-12-21T22:56:58ZengElsevierStem Cell Research1873-50612021-03-0151102188Reprogramming of human peripheral blood mononuclear cell (PBMC) from a patient suffering from hearing loss into iPSC line (SDQLCHi035-A) maintaining compound heterozygous variations in GJB2 geneXiaomeng Yang0Ning Liu1Hong Mu2Yuqiang Lv3Haiyan Zhang4Yue Li5Jingyun Guan6Zhongtao Gai7Yi Liu8Pediatric Research Institute, Qilu Children’s Hospital of Shandong University, Jinan, Shandong 250022, ChinaPediatric Research Institute, Qilu Children’s Hospital of Shandong University, Jinan, Shandong 250022, ChinaOtolaryngology Department, Qilu Children’s Hospital of Shandong University, Jinan, Shandong 250022, ChinaPediatric Research Institute, Qilu Children’s Hospital of Shandong University, Jinan, Shandong 250022, ChinaPediatric Research Institute, Qilu Children’s Hospital of Shandong University, Jinan, Shandong 250022, ChinaPediatric Research Institute, Qilu Children’s Hospital of Shandong University, Jinan, Shandong 250022, ChinaPediatric Research Institute, Qilu Children’s Hospital of Shandong University, Jinan, Shandong 250022, ChinaPediatric Research Institute, Qilu Children’s Hospital of Shandong University, Jinan, Shandong 250022, China; Corresponding authors.Pediatric Research Institute, Qilu Children’s Hospital of Shandong University, Jinan, Shandong 250022, China; Corresponding authors.Mutation in the gap junction beta-2 (GJB2) gene is a main cause of autosomal-recessive nonsyndromic hearing loss (ARNSHL). The c.235delC and c.299-300del mutations are more common mutations in Chinese Han deaf patients, in which the compound heterozygous mutations of these two sites cause severe-to-profound hearing loss in a significant percentage. We established an induced pluripotent stem cell (iPSC) line from a 2-year-old boy with hearing loss, caused by compound heterozygous mutations in GJB2 (c.235delC and c.299-300del). The iPSCs was verified based on pluripotency markers and demonstrated trilineage differentiation potential in vitro.http://www.sciencedirect.com/science/article/pii/S1873506121000349 |
| spellingShingle | Xiaomeng Yang Ning Liu Hong Mu Yuqiang Lv Haiyan Zhang Yue Li Jingyun Guan Zhongtao Gai Yi Liu Reprogramming of human peripheral blood mononuclear cell (PBMC) from a patient suffering from hearing loss into iPSC line (SDQLCHi035-A) maintaining compound heterozygous variations in GJB2 gene Stem Cell Research |
| title | Reprogramming of human peripheral blood mononuclear cell (PBMC) from a patient suffering from hearing loss into iPSC line (SDQLCHi035-A) maintaining compound heterozygous variations in GJB2 gene |
| title_full | Reprogramming of human peripheral blood mononuclear cell (PBMC) from a patient suffering from hearing loss into iPSC line (SDQLCHi035-A) maintaining compound heterozygous variations in GJB2 gene |
| title_fullStr | Reprogramming of human peripheral blood mononuclear cell (PBMC) from a patient suffering from hearing loss into iPSC line (SDQLCHi035-A) maintaining compound heterozygous variations in GJB2 gene |
| title_full_unstemmed | Reprogramming of human peripheral blood mononuclear cell (PBMC) from a patient suffering from hearing loss into iPSC line (SDQLCHi035-A) maintaining compound heterozygous variations in GJB2 gene |
| title_short | Reprogramming of human peripheral blood mononuclear cell (PBMC) from a patient suffering from hearing loss into iPSC line (SDQLCHi035-A) maintaining compound heterozygous variations in GJB2 gene |
| title_sort | reprogramming of human peripheral blood mononuclear cell pbmc from a patient suffering from hearing loss into ipsc line sdqlchi035 a maintaining compound heterozygous variations in gjb2 gene |
| url | http://www.sciencedirect.com/science/article/pii/S1873506121000349 |
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