Generation of an induced pluripotent stem cell line (SDQLCHi003-a) from a patient with short rib-thoracic dysplasia syndrome type III carrying compound heterozygous mutations in DYNC2H1
An induced pluripotent stem cell (iPSC) line was generated from peripheral blood mononuclear cells from a 27-month-old boy with short rib-thoracic dysplasia syndrome type III carrying compound heterozygous mutations (c.940T>C(p.W314R) and c.10163C>T(p.P3388L)) in DYNC2H1. The iPSCs have a norm...
| Main Authors: | , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2019-08-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506119301357 |
| _version_ | 1819039435809882112 |
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| author | Haiyan Zhang Yanyan Ma Fengling Song Xiaomeng Yang Yue Li Jingyun Guan Yuqiang Lv Min Gao Jian Ma Yi Liu Zhongtao Gai |
| author_facet | Haiyan Zhang Yanyan Ma Fengling Song Xiaomeng Yang Yue Li Jingyun Guan Yuqiang Lv Min Gao Jian Ma Yi Liu Zhongtao Gai |
| author_sort | Haiyan Zhang |
| collection | DOAJ |
| description | An induced pluripotent stem cell (iPSC) line was generated from peripheral blood mononuclear cells from a 27-month-old boy with short rib-thoracic dysplasia syndrome type III carrying compound heterozygous mutations (c.940T>C(p.W314R) and c.10163C>T(p.P3388L)) in DYNC2H1. The iPSCs have a normal karyotype, and express pluripotency markers and bear differentiation potential in vitro. |
| first_indexed | 2024-12-21T08:53:10Z |
| format | Article |
| id | doaj.art-3f54f527539041ad8837156f442762e5 |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-12-21T08:53:10Z |
| publishDate | 2019-08-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-3f54f527539041ad8837156f442762e52022-12-21T19:09:38ZengElsevierStem Cell Research1873-50612019-08-0139Generation of an induced pluripotent stem cell line (SDQLCHi003-a) from a patient with short rib-thoracic dysplasia syndrome type III carrying compound heterozygous mutations in DYNC2H1Haiyan Zhang0Yanyan Ma1Fengling Song2Xiaomeng Yang3Yue Li4Jingyun Guan5Yuqiang Lv6Min Gao7Jian Ma8Yi Liu9Zhongtao Gai10Pediatric 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 Health Care Institute, 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, 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 at: Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China.Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China; Pediatric Health Care Institute, Qilu Children's Hospital of Shandong University, Jinan, Shangdong 250022, China; Corresponding authors at: Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China.An induced pluripotent stem cell (iPSC) line was generated from peripheral blood mononuclear cells from a 27-month-old boy with short rib-thoracic dysplasia syndrome type III carrying compound heterozygous mutations (c.940T>C(p.W314R) and c.10163C>T(p.P3388L)) in DYNC2H1. The iPSCs have a normal karyotype, and express pluripotency markers and bear differentiation potential in vitro.http://www.sciencedirect.com/science/article/pii/S1873506119301357 |
| spellingShingle | Haiyan Zhang Yanyan Ma Fengling Song Xiaomeng Yang Yue Li Jingyun Guan Yuqiang Lv Min Gao Jian Ma Yi Liu Zhongtao Gai Generation of an induced pluripotent stem cell line (SDQLCHi003-a) from a patient with short rib-thoracic dysplasia syndrome type III carrying compound heterozygous mutations in DYNC2H1 Stem Cell Research |
| title | Generation of an induced pluripotent stem cell line (SDQLCHi003-a) from a patient with short rib-thoracic dysplasia syndrome type III carrying compound heterozygous mutations in DYNC2H1 |
| title_full | Generation of an induced pluripotent stem cell line (SDQLCHi003-a) from a patient with short rib-thoracic dysplasia syndrome type III carrying compound heterozygous mutations in DYNC2H1 |
| title_fullStr | Generation of an induced pluripotent stem cell line (SDQLCHi003-a) from a patient with short rib-thoracic dysplasia syndrome type III carrying compound heterozygous mutations in DYNC2H1 |
| title_full_unstemmed | Generation of an induced pluripotent stem cell line (SDQLCHi003-a) from a patient with short rib-thoracic dysplasia syndrome type III carrying compound heterozygous mutations in DYNC2H1 |
| title_short | Generation of an induced pluripotent stem cell line (SDQLCHi003-a) from a patient with short rib-thoracic dysplasia syndrome type III carrying compound heterozygous mutations in DYNC2H1 |
| title_sort | generation of an induced pluripotent stem cell line sdqlchi003 a from a patient with short rib thoracic dysplasia syndrome type iii carrying compound heterozygous mutations in dync2h1 |
| url | http://www.sciencedirect.com/science/article/pii/S1873506119301357 |
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