Characterization of UMi028-A-1 stem cell line that contains a CRISPR/Cas9 induced hearing loss-associated variant (V60L (c.178G > T)) in the P2RX2 gene
UMi028-A-1 hiPSC line contains a CRISPR/Cas9-induced heterozygous, hearing loss-associated variant (V60L (GTA > TTA)) in the Purinergic Receptor P2X2 (P2RX2) gene. This line, derived from an unaffected male iPSC line, has been successfully characterized for its cellular and genetic properties. Th...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2020-12-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506120303184 |
| _version_ | 1818846750111170560 |
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| author | Nicholas C. Gosstola Zaohua Huang Xiaoying Tong Aida Nourbakhsh Zheng-Yi Chen Derek M. Dykxhoorn Xue Zhong Liu |
| author_facet | Nicholas C. Gosstola Zaohua Huang Xiaoying Tong Aida Nourbakhsh Zheng-Yi Chen Derek M. Dykxhoorn Xue Zhong Liu |
| author_sort | Nicholas C. Gosstola |
| collection | DOAJ |
| description | UMi028-A-1 hiPSC line contains a CRISPR/Cas9-induced heterozygous, hearing loss-associated variant (V60L (GTA > TTA)) in the Purinergic Receptor P2X2 (P2RX2) gene. This line, derived from an unaffected male iPSC line, has been successfully characterized for its cellular and genetic properties. The c.178G > T variant in P2RX2 is associated with non-syndromic, dominant, progressive hearing loss. Once differentiated into inner ear cell types, UMi028-A-1 will serve as a resource for understanding the molecular mechanisms underlying hearing loss and serve as a potential platform for testing therapeutic approaches to restore inner ear function. |
| first_indexed | 2024-12-19T05:50:31Z |
| format | Article |
| id | doaj.art-40d0ee6b88e94a7dad955dcb5db7417a |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-12-19T05:50:31Z |
| publishDate | 2020-12-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-40d0ee6b88e94a7dad955dcb5db7417a2022-12-21T20:33:38ZengElsevierStem Cell Research1873-50612020-12-0149102017Characterization of UMi028-A-1 stem cell line that contains a CRISPR/Cas9 induced hearing loss-associated variant (V60L (c.178G > T)) in the P2RX2 geneNicholas C. Gosstola0Zaohua Huang1Xiaoying Tong2Aida Nourbakhsh3Zheng-Yi Chen4Derek M. Dykxhoorn5Xue Zhong Liu6Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL 33136, United StatesDepartment of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL 33136, United StatesDepartment of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL 33136, United StatesDepartment of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL 33136, United StatesDepartment of Otolaryngology and Program in Neuroscience, Harvard Medical School, Boston, MA 02114, United StatesJohn P. Hussman Institute for Human Genomics; John T Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL 33136, United StatesDepartment of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL 33136, United States; John P. Hussman Institute for Human Genomics; John T Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL 33136, United States; Corresponding author at: University of Miami Miller School of Medicine, 1120 NW 14th Street, 5th Floor, Miami, FL 33136, United States.UMi028-A-1 hiPSC line contains a CRISPR/Cas9-induced heterozygous, hearing loss-associated variant (V60L (GTA > TTA)) in the Purinergic Receptor P2X2 (P2RX2) gene. This line, derived from an unaffected male iPSC line, has been successfully characterized for its cellular and genetic properties. The c.178G > T variant in P2RX2 is associated with non-syndromic, dominant, progressive hearing loss. Once differentiated into inner ear cell types, UMi028-A-1 will serve as a resource for understanding the molecular mechanisms underlying hearing loss and serve as a potential platform for testing therapeutic approaches to restore inner ear function.http://www.sciencedirect.com/science/article/pii/S1873506120303184 |
| spellingShingle | Nicholas C. Gosstola Zaohua Huang Xiaoying Tong Aida Nourbakhsh Zheng-Yi Chen Derek M. Dykxhoorn Xue Zhong Liu Characterization of UMi028-A-1 stem cell line that contains a CRISPR/Cas9 induced hearing loss-associated variant (V60L (c.178G > T)) in the P2RX2 gene Stem Cell Research |
| title | Characterization of UMi028-A-1 stem cell line that contains a CRISPR/Cas9 induced hearing loss-associated variant (V60L (c.178G > T)) in the P2RX2 gene |
| title_full | Characterization of UMi028-A-1 stem cell line that contains a CRISPR/Cas9 induced hearing loss-associated variant (V60L (c.178G > T)) in the P2RX2 gene |
| title_fullStr | Characterization of UMi028-A-1 stem cell line that contains a CRISPR/Cas9 induced hearing loss-associated variant (V60L (c.178G > T)) in the P2RX2 gene |
| title_full_unstemmed | Characterization of UMi028-A-1 stem cell line that contains a CRISPR/Cas9 induced hearing loss-associated variant (V60L (c.178G > T)) in the P2RX2 gene |
| title_short | Characterization of UMi028-A-1 stem cell line that contains a CRISPR/Cas9 induced hearing loss-associated variant (V60L (c.178G > T)) in the P2RX2 gene |
| title_sort | characterization of umi028 a 1 stem cell line that contains a crispr cas9 induced hearing loss associated variant v60l c 178g t in the p2rx2 gene |
| url | http://www.sciencedirect.com/science/article/pii/S1873506120303184 |
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