Generation of an iPSC line (SDQLCHi015-A) from peripheral blood mononuclear cells of a patient with mental retardation type 15 carrying c.1007_1011del, p.(Ile336fs) in CUL4B gene
CUL4B gene mutation can cause intelligence deficiency 15, a syndromic form of X-linked mental retardation characterized by severe intellectual deficit associated with short stature, craniofacial dysmorphism, speech delay and impairment, tremor and gait ataxia. Here, we generated iPSCs from a Chinese...
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Elsevier
2019-12-01
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Series: | Stem Cell Research |
Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506119302582 |
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author | Jingyun Guan Xiaolin Liu Haiyan Zhang Yuqiang Lv Xiaojing Wang Xiaomeng Yang Yanyan Ma Qiji Liu Yi Liu Wenjie Sun |
author_facet | Jingyun Guan Xiaolin Liu Haiyan Zhang Yuqiang Lv Xiaojing Wang Xiaomeng Yang Yanyan Ma Qiji Liu Yi Liu Wenjie Sun |
author_sort | Jingyun Guan |
collection | DOAJ |
description | CUL4B gene mutation can cause intelligence deficiency 15, a syndromic form of X-linked mental retardation characterized by severe intellectual deficit associated with short stature, craniofacial dysmorphism, speech delay and impairment, tremor and gait ataxia. Here, we generated iPSCs from a Chinese patient with c.1007_1011del (p.(Ile336fs)) in CUL4B gene by reprogramming peripheral blood mononuclear cells with non-integrating vectors. The generated iPSC line (SDQLCHi015-A) expresses pluripotency markers, presents a normal karyotype and is able to differentiate into three germ layers. |
first_indexed | 2024-12-10T09:37:23Z |
format | Article |
id | doaj.art-506856c8da0b498fa21986b933bc23d1 |
institution | Directory Open Access Journal |
issn | 1873-5061 |
language | English |
last_indexed | 2024-12-10T09:37:23Z |
publishDate | 2019-12-01 |
publisher | Elsevier |
record_format | Article |
series | Stem Cell Research |
spelling | doaj.art-506856c8da0b498fa21986b933bc23d12022-12-22T01:54:08ZengElsevierStem Cell Research1873-50612019-12-0141Generation of an iPSC line (SDQLCHi015-A) from peripheral blood mononuclear cells of a patient with mental retardation type 15 carrying c.1007_1011del, p.(Ile336fs) in CUL4B geneJingyun Guan0Xiaolin Liu1Haiyan Zhang2Yuqiang Lv3Xiaojing Wang4Xiaomeng Yang5Yanyan Ma6Qiji Liu7Yi Liu8Wenjie Sun9Pediatric 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; The Key Laboratory of Experimental Teratology, Department of Genetics, School of basic medical sciences, Shandong University, Jinan, Shandong 250012, 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, ChinaThe Key Laboratory of Experimental Teratology, Department of Genetics, School of basic medical sciences, Shandong University, Jinan, Shandong 250012, 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, ChinaThe Key Laboratory of Experimental Teratology, Department of Genetics, School of basic medical sciences, Shandong University, Jinan, Shandong 250012, ChinaPediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China; Corresponding authors.The Key Laboratory of Experimental Teratology, Department of Genetics, School of basic medical sciences, Shandong University, Jinan, Shandong 250012, China; Corresponding authors.CUL4B gene mutation can cause intelligence deficiency 15, a syndromic form of X-linked mental retardation characterized by severe intellectual deficit associated with short stature, craniofacial dysmorphism, speech delay and impairment, tremor and gait ataxia. Here, we generated iPSCs from a Chinese patient with c.1007_1011del (p.(Ile336fs)) in CUL4B gene by reprogramming peripheral blood mononuclear cells with non-integrating vectors. The generated iPSC line (SDQLCHi015-A) expresses pluripotency markers, presents a normal karyotype and is able to differentiate into three germ layers.http://www.sciencedirect.com/science/article/pii/S1873506119302582 |
spellingShingle | Jingyun Guan Xiaolin Liu Haiyan Zhang Yuqiang Lv Xiaojing Wang Xiaomeng Yang Yanyan Ma Qiji Liu Yi Liu Wenjie Sun Generation of an iPSC line (SDQLCHi015-A) from peripheral blood mononuclear cells of a patient with mental retardation type 15 carrying c.1007_1011del, p.(Ile336fs) in CUL4B gene Stem Cell Research |
title | Generation of an iPSC line (SDQLCHi015-A) from peripheral blood mononuclear cells of a patient with mental retardation type 15 carrying c.1007_1011del, p.(Ile336fs) in CUL4B gene |
title_full | Generation of an iPSC line (SDQLCHi015-A) from peripheral blood mononuclear cells of a patient with mental retardation type 15 carrying c.1007_1011del, p.(Ile336fs) in CUL4B gene |
title_fullStr | Generation of an iPSC line (SDQLCHi015-A) from peripheral blood mononuclear cells of a patient with mental retardation type 15 carrying c.1007_1011del, p.(Ile336fs) in CUL4B gene |
title_full_unstemmed | Generation of an iPSC line (SDQLCHi015-A) from peripheral blood mononuclear cells of a patient with mental retardation type 15 carrying c.1007_1011del, p.(Ile336fs) in CUL4B gene |
title_short | Generation of an iPSC line (SDQLCHi015-A) from peripheral blood mononuclear cells of a patient with mental retardation type 15 carrying c.1007_1011del, p.(Ile336fs) in CUL4B gene |
title_sort | generation of an ipsc line sdqlchi015 a from peripheral blood mononuclear cells of a patient with mental retardation type 15 carrying c 1007 1011del p ile336fs in cul4b gene |
url | http://www.sciencedirect.com/science/article/pii/S1873506119302582 |
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