Establishment of a human iPSC line (SDQLCHi010-A) from a patient with optic nerve malformation carrying a heterozygous mutation in PAX6 gene
We established an induced pluripotent stem cell (iPSC) line (SDQLCHi010-A) from peripheral blood mononuclear cells isolated from a 4-year-old boy with optic nerve malformation and intellectual disability carrying a heterozygous mutation (c.220A>G (p.S74G)) in PAX6 gene. Non-integrating episomal v...
| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2019-12-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506119302417 |
| _version_ | 1818477451704008704 |
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| author | Haiyan Zhang Yanyan Ma Shujuan Yu Xiaomeng Yang Yue Li Jingyun Guan Rui Dong Zhongtao Gai Yi Liu |
| author_facet | Haiyan Zhang Yanyan Ma Shujuan Yu Xiaomeng Yang Yue Li Jingyun Guan Rui Dong Zhongtao Gai Yi Liu |
| author_sort | Haiyan Zhang |
| collection | DOAJ |
| description | We established an induced pluripotent stem cell (iPSC) line (SDQLCHi010-A) from peripheral blood mononuclear cells isolated from a 4-year-old boy with optic nerve malformation and intellectual disability carrying a heterozygous mutation (c.220A>G (p.S74G)) in PAX6 gene. Non-integrating episomal vectors containing OCT4, SOX2, KLF4, BCL-XL and MYC were used for reprogramming. The established iPSC line showed normal karyotype, expressed pluripotency markers, exhibited differentiation potential in vitro and kept PAX6 gene mutation. |
| first_indexed | 2024-12-10T09:37:58Z |
| format | Article |
| id | doaj.art-f9fa9d26981744cab83265669fe12876 |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-12-10T09:37:58Z |
| publishDate | 2019-12-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-f9fa9d26981744cab83265669fe128762022-12-22T01:54:08ZengElsevierStem Cell Research1873-50612019-12-0141Establishment of a human iPSC line (SDQLCHi010-A) from a patient with optic nerve malformation carrying a heterozygous mutation in PAX6 geneHaiyan Zhang0Yanyan Ma1Shujuan Yu2Xiaomeng Yang3Yue Li4Jingyun Guan5Rui Dong6Zhongtao 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, ChinaDepartment of Ophthalmology, Qilu Children's Hospital of Shandong University, Jinan, Shangdong 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; Department of Ophthalmology, Qilu Children's Hospital of Shandong University, Jinan, Shangdong 250022, China; Corresponding authors.Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong. 250022, China; Corresponding authors.We established an induced pluripotent stem cell (iPSC) line (SDQLCHi010-A) from peripheral blood mononuclear cells isolated from a 4-year-old boy with optic nerve malformation and intellectual disability carrying a heterozygous mutation (c.220A>G (p.S74G)) in PAX6 gene. Non-integrating episomal vectors containing OCT4, SOX2, KLF4, BCL-XL and MYC were used for reprogramming. The established iPSC line showed normal karyotype, expressed pluripotency markers, exhibited differentiation potential in vitro and kept PAX6 gene mutation.http://www.sciencedirect.com/science/article/pii/S1873506119302417 |
| spellingShingle | Haiyan Zhang Yanyan Ma Shujuan Yu Xiaomeng Yang Yue Li Jingyun Guan Rui Dong Zhongtao Gai Yi Liu Establishment of a human iPSC line (SDQLCHi010-A) from a patient with optic nerve malformation carrying a heterozygous mutation in PAX6 gene Stem Cell Research |
| title | Establishment of a human iPSC line (SDQLCHi010-A) from a patient with optic nerve malformation carrying a heterozygous mutation in PAX6 gene |
| title_full | Establishment of a human iPSC line (SDQLCHi010-A) from a patient with optic nerve malformation carrying a heterozygous mutation in PAX6 gene |
| title_fullStr | Establishment of a human iPSC line (SDQLCHi010-A) from a patient with optic nerve malformation carrying a heterozygous mutation in PAX6 gene |
| title_full_unstemmed | Establishment of a human iPSC line (SDQLCHi010-A) from a patient with optic nerve malformation carrying a heterozygous mutation in PAX6 gene |
| title_short | Establishment of a human iPSC line (SDQLCHi010-A) from a patient with optic nerve malformation carrying a heterozygous mutation in PAX6 gene |
| title_sort | establishment of a human ipsc line sdqlchi010 a from a patient with optic nerve malformation carrying a heterozygous mutation in pax6 gene |
| url | http://www.sciencedirect.com/science/article/pii/S1873506119302417 |
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