Generation of a human Ocular Albinism type 1 iPSC line, SEIi001-A, with a mutation in GPR143
Ocular albinism type 1 is a genetic eye disease caused by mutations in the GPR143 gene. Little is known about the molecular pathways involved in this disease and no therapeutic candidate has been identified as yet. Here we report the generation of an iPSC line from the skin fibroblasts of a patient...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2018-12-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S187350611830285X |
| _version_ | 1818047267903373312 |
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| author | Edouard Baulier Alejandro Garcia Diaz Barbara Corneo Debora B. Farber |
| author_facet | Edouard Baulier Alejandro Garcia Diaz Barbara Corneo Debora B. Farber |
| author_sort | Edouard Baulier |
| collection | DOAJ |
| description | Ocular albinism type 1 is a genetic eye disease caused by mutations in the GPR143 gene. Little is known about the molecular pathways involved in this disease and no therapeutic candidate has been identified as yet. Here we report the generation of an iPSC line from the skin fibroblasts of a patient with a mutation in the GPR143 gene using Sendai Virus vectors. This new iPSC line will allow a better understanding of the Ocular Albinism type 1 disease and to screen for potential therapeutic candidates. |
| first_indexed | 2024-12-10T10:03:05Z |
| format | Article |
| id | doaj.art-fc261ce8aaf6456cb3076fa237c8dc11 |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-12-10T10:03:05Z |
| publishDate | 2018-12-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-fc261ce8aaf6456cb3076fa237c8dc112022-12-22T01:53:19ZengElsevierStem Cell Research1873-50612018-12-0133274277Generation of a human Ocular Albinism type 1 iPSC line, SEIi001-A, with a mutation in GPR143Edouard Baulier0Alejandro Garcia Diaz1Barbara Corneo2Debora B. Farber3Stein Eye Institute, Department of Ophthalmology, UCLA School of Medicine, Los Angeles, CA 90095, USA; Corresponding author.Stem Cell Core Facility, Columbia University Medical Center, New York, NY 10032, USAStem Cell Core Facility, Columbia University Medical Center, New York, NY 10032, USAStein Eye Institute, Department of Ophthalmology, UCLA School of Medicine, Los Angeles, CA 90095, USA; Molecular Biology Institute, UCLA, Los Angeles, CA 90095, USA; Brain Research Institute, UCLA, Los Angeles, CA 90095, USAOcular albinism type 1 is a genetic eye disease caused by mutations in the GPR143 gene. Little is known about the molecular pathways involved in this disease and no therapeutic candidate has been identified as yet. Here we report the generation of an iPSC line from the skin fibroblasts of a patient with a mutation in the GPR143 gene using Sendai Virus vectors. This new iPSC line will allow a better understanding of the Ocular Albinism type 1 disease and to screen for potential therapeutic candidates.http://www.sciencedirect.com/science/article/pii/S187350611830285X |
| spellingShingle | Edouard Baulier Alejandro Garcia Diaz Barbara Corneo Debora B. Farber Generation of a human Ocular Albinism type 1 iPSC line, SEIi001-A, with a mutation in GPR143 Stem Cell Research |
| title | Generation of a human Ocular Albinism type 1 iPSC line, SEIi001-A, with a mutation in GPR143 |
| title_full | Generation of a human Ocular Albinism type 1 iPSC line, SEIi001-A, with a mutation in GPR143 |
| title_fullStr | Generation of a human Ocular Albinism type 1 iPSC line, SEIi001-A, with a mutation in GPR143 |
| title_full_unstemmed | Generation of a human Ocular Albinism type 1 iPSC line, SEIi001-A, with a mutation in GPR143 |
| title_short | Generation of a human Ocular Albinism type 1 iPSC line, SEIi001-A, with a mutation in GPR143 |
| title_sort | generation of a human ocular albinism type 1 ipsc line seii001 a with a mutation in gpr143 |
| url | http://www.sciencedirect.com/science/article/pii/S187350611830285X |
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