Establishment of an induced pluripotent stem cell line from a Noonan syndrome patient with the heterozygote mutation p.S257L (c.770C > T) in RAF1 gene
Noonan Syndrome (NS) is an inherited autosome dominant disorder syndrome, which can be caused by the mutations of serine/threonine kinase rapidly accelerated fibrosarcoma 1 (RAF1) gene. Here, an induced pluripotent stem cell (iPSC) line named WMUi022-A derived from urine cells (UCs) of a 9-year-old...
| Main Authors: | , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2021-05-01
|
| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506121001276 |
| _version_ | 1818833221359501312 |
|---|---|
| author | Xiaoling Guo Rengcheng Qian Liang Yang Huihui Chen Yinjuan Ding Xiaoou Shan Congde Chen Wenfei Ni Jian Lin Maoping Chu |
| author_facet | Xiaoling Guo Rengcheng Qian Liang Yang Huihui Chen Yinjuan Ding Xiaoou Shan Congde Chen Wenfei Ni Jian Lin Maoping Chu |
| author_sort | Xiaoling Guo |
| collection | DOAJ |
| description | Noonan Syndrome (NS) is an inherited autosome dominant disorder syndrome, which can be caused by the mutations of serine/threonine kinase rapidly accelerated fibrosarcoma 1 (RAF1) gene. Here, an induced pluripotent stem cell (iPSC) line named WMUi022-A derived from urine cells (UCs) of a 9-year-old male NS patient with the heterozygote RAF1 gene mutation p.S257L (c.770C > T) was established through the commercial Sendai virus reprogramming kit. The pluripotent markers like OCT4 and SOX2 can be expressed positively in WMUi022-A, which can be induced into three germ layers in vitro as well as maintain a normal karyotype (46, XY). |
| first_indexed | 2024-12-19T02:15:29Z |
| format | Article |
| id | doaj.art-6dbaba2a876444f1a15a03c27b9158a6 |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-12-19T02:15:29Z |
| publishDate | 2021-05-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-6dbaba2a876444f1a15a03c27b9158a62022-12-21T20:40:27ZengElsevierStem Cell Research1873-50612021-05-0153102281Establishment of an induced pluripotent stem cell line from a Noonan syndrome patient with the heterozygote mutation p.S257L (c.770C > T) in RAF1 geneXiaoling Guo0Rengcheng Qian1Liang Yang2Huihui Chen3Yinjuan Ding4Xiaoou Shan5Congde Chen6Wenfei Ni7Jian Lin8Maoping Chu9Center of Scientific Research, the Second Affiliated Hospital and Yuying Children’s Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China; Department of Pediatrics, the Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, China; Corresponding authors at: Center of Scientific Research, the Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, 109 Xueyuan West Road, Wenzhou 325027, Zhejiang, China.Department of Pediatrics, the Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, ChinaDepartment of Neurosurgery, the Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, ChinaDepartment of Pediatrics, the Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, ChinaCenter of Scientific Research, the Second Affiliated Hospital and Yuying Children’s Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, ChinaDepartment of Pediatrics, the Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, ChinaDepartment of Pediatrics, the Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, ChinaDepartment of Orthopaedic Surgery, the Second Affiliated Hospital and Yuying Children’s Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, ChinaDepartment of Neurosurgery, the Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, China; Corresponding authors at: Center of Scientific Research, the Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, 109 Xueyuan West Road, Wenzhou 325027, Zhejiang, China.Department of Pediatrics, the Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, China; Corresponding authors at: Center of Scientific Research, the Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, 109 Xueyuan West Road, Wenzhou 325027, Zhejiang, China.Noonan Syndrome (NS) is an inherited autosome dominant disorder syndrome, which can be caused by the mutations of serine/threonine kinase rapidly accelerated fibrosarcoma 1 (RAF1) gene. Here, an induced pluripotent stem cell (iPSC) line named WMUi022-A derived from urine cells (UCs) of a 9-year-old male NS patient with the heterozygote RAF1 gene mutation p.S257L (c.770C > T) was established through the commercial Sendai virus reprogramming kit. The pluripotent markers like OCT4 and SOX2 can be expressed positively in WMUi022-A, which can be induced into three germ layers in vitro as well as maintain a normal karyotype (46, XY).http://www.sciencedirect.com/science/article/pii/S1873506121001276 |
| spellingShingle | Xiaoling Guo Rengcheng Qian Liang Yang Huihui Chen Yinjuan Ding Xiaoou Shan Congde Chen Wenfei Ni Jian Lin Maoping Chu Establishment of an induced pluripotent stem cell line from a Noonan syndrome patient with the heterozygote mutation p.S257L (c.770C > T) in RAF1 gene Stem Cell Research |
| title | Establishment of an induced pluripotent stem cell line from a Noonan syndrome patient with the heterozygote mutation p.S257L (c.770C > T) in RAF1 gene |
| title_full | Establishment of an induced pluripotent stem cell line from a Noonan syndrome patient with the heterozygote mutation p.S257L (c.770C > T) in RAF1 gene |
| title_fullStr | Establishment of an induced pluripotent stem cell line from a Noonan syndrome patient with the heterozygote mutation p.S257L (c.770C > T) in RAF1 gene |
| title_full_unstemmed | Establishment of an induced pluripotent stem cell line from a Noonan syndrome patient with the heterozygote mutation p.S257L (c.770C > T) in RAF1 gene |
| title_short | Establishment of an induced pluripotent stem cell line from a Noonan syndrome patient with the heterozygote mutation p.S257L (c.770C > T) in RAF1 gene |
| title_sort | establishment of an induced pluripotent stem cell line from a noonan syndrome patient with the heterozygote mutation p s257l c 770c t in raf1 gene |
| url | http://www.sciencedirect.com/science/article/pii/S1873506121001276 |
| work_keys_str_mv | AT xiaolingguo establishmentofaninducedpluripotentstemcelllinefromanoonansyndromepatientwiththeheterozygotemutationps257lc770ctinraf1gene AT rengchengqian establishmentofaninducedpluripotentstemcelllinefromanoonansyndromepatientwiththeheterozygotemutationps257lc770ctinraf1gene AT liangyang establishmentofaninducedpluripotentstemcelllinefromanoonansyndromepatientwiththeheterozygotemutationps257lc770ctinraf1gene AT huihuichen establishmentofaninducedpluripotentstemcelllinefromanoonansyndromepatientwiththeheterozygotemutationps257lc770ctinraf1gene AT yinjuanding establishmentofaninducedpluripotentstemcelllinefromanoonansyndromepatientwiththeheterozygotemutationps257lc770ctinraf1gene AT xiaooushan establishmentofaninducedpluripotentstemcelllinefromanoonansyndromepatientwiththeheterozygotemutationps257lc770ctinraf1gene AT congdechen establishmentofaninducedpluripotentstemcelllinefromanoonansyndromepatientwiththeheterozygotemutationps257lc770ctinraf1gene AT wenfeini establishmentofaninducedpluripotentstemcelllinefromanoonansyndromepatientwiththeheterozygotemutationps257lc770ctinraf1gene AT jianlin establishmentofaninducedpluripotentstemcelllinefromanoonansyndromepatientwiththeheterozygotemutationps257lc770ctinraf1gene AT maopingchu establishmentofaninducedpluripotentstemcelllinefromanoonansyndromepatientwiththeheterozygotemutationps257lc770ctinraf1gene |