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...

Full description

Bibliographic Details
Main Authors: Jingyun Guan, Xiaolin Liu, Haiyan Zhang, Yuqiang Lv, Xiaojing Wang, Xiaomeng Yang, Yanyan Ma, Qiji Liu, Yi Liu, Wenjie Sun
Format: Article
Language:English
Published: Elsevier 2019-12-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506119302582
_version_ 1818477395009601536
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
work_keys_str_mv AT jingyunguan generationofanipsclinesdqlchi015afromperipheralbloodmononuclearcellsofapatientwithmentalretardationtype15carryingc10071011delpile336fsincul4bgene
AT xiaolinliu generationofanipsclinesdqlchi015afromperipheralbloodmononuclearcellsofapatientwithmentalretardationtype15carryingc10071011delpile336fsincul4bgene
AT haiyanzhang generationofanipsclinesdqlchi015afromperipheralbloodmononuclearcellsofapatientwithmentalretardationtype15carryingc10071011delpile336fsincul4bgene
AT yuqianglv generationofanipsclinesdqlchi015afromperipheralbloodmononuclearcellsofapatientwithmentalretardationtype15carryingc10071011delpile336fsincul4bgene
AT xiaojingwang generationofanipsclinesdqlchi015afromperipheralbloodmononuclearcellsofapatientwithmentalretardationtype15carryingc10071011delpile336fsincul4bgene
AT xiaomengyang generationofanipsclinesdqlchi015afromperipheralbloodmononuclearcellsofapatientwithmentalretardationtype15carryingc10071011delpile336fsincul4bgene
AT yanyanma generationofanipsclinesdqlchi015afromperipheralbloodmononuclearcellsofapatientwithmentalretardationtype15carryingc10071011delpile336fsincul4bgene
AT qijiliu generationofanipsclinesdqlchi015afromperipheralbloodmononuclearcellsofapatientwithmentalretardationtype15carryingc10071011delpile336fsincul4bgene
AT yiliu generationofanipsclinesdqlchi015afromperipheralbloodmononuclearcellsofapatientwithmentalretardationtype15carryingc10071011delpile336fsincul4bgene
AT wenjiesun generationofanipsclinesdqlchi015afromperipheralbloodmononuclearcellsofapatientwithmentalretardationtype15carryingc10071011delpile336fsincul4bgene