PBMC-derived integration-free iPSCs line SDQLCHi039-A from a patient with X-linked agammaglobulinemia carrying a novel 9-bp in-frame deletion in BTK gene

PBMC-derived integration-free iPSCs line SDQLCHi039-A from a patient with X-linked agammaglobulinemia carrying a novel 9-bp in-frame deletion in BTK gene

X-linked agammaglobulinemia (XLA, OMIM #300755) is one of the most common pediatric primary immunodeficiencies characterized by failure to produce mature B lymphocytes and hypogammaglobulinemia, caused by mutation of the gene encoding Bruton's tyrosine kinase (BTK, OMIM *300300), a key regulato...

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Main Authors: Ning Liu, Xiaomeng Yang, Sulan Wang, Rui Dong, Yue Li, Yuqiang Lv, Yi Liu, Zhongtao Gai
Format: Article
Language:English
Published: Elsevier 2021-03-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506121000118
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spelling doaj-625a718868394ea6ad79962f85b3764e2021-03-13T04:22:12ZengElsevierStem Cell Research1873-50612021-03-0151102165PBMC-derived integration-free iPSCs line SDQLCHi039-A from a patient with X-linked agammaglobulinemia carrying a novel 9-bp in-frame deletion in BTK geneNing Liu0Xiaomeng Yang1Sulan Wang2Rui Dong3Yue Li4Yuqiang Lv5Yi Liu6Zhongtao Gai7Pediatric Research Institute, Qilu Children’s Hospital of Shandong University, Jinan, Shandong 250022, China; Key Laboratory of Infection and Immunity of Shandong Province, Department of Immunology, School of Biomedical Sciences, Shandong University, Jinan 250012, ChinaPediatric Research Institute, Qilu Children’s Hospital of Shandong University, Jinan, Shandong 250022, ChinaBlood Transfusion Department, 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.Pediatric Research Institute, Qilu Children’s Hospital of Shandong University, Jinan, Shandong 250022, China; Corresponding authors.X-linked agammaglobulinemia (XLA, OMIM #300755) is one of the most common pediatric primary immunodeficiencies characterized by failure to produce mature B lymphocytes and hypogammaglobulinemia, caused by mutation of the gene encoding Bruton's tyrosine kinase (BTK, OMIM *300300), a key regulator in B-cell development. Patients suffering XLA are prone to recurrent bacterial infection. We established an induced pluripotent stem cells (iPSCs) line from a 3-year-5-month-old boy with XLA caused by a hemizygous in-frame 9-bp deletion in BTK (c.1530-1538delATACCTGGA, p.Y510_E513delEYLEinsE). The iPSCs was verified based on pluripotency markers, original gene mutation and demonstrated trilineage differentiation potential in vitro.http://www.sciencedirect.com/science/article/pii/S1873506121000118
collection DOAJ
language English
format Article
sources DOAJ
author Ning Liu
Xiaomeng Yang
Sulan Wang
Rui Dong
Yue Li
Yuqiang Lv
Yi Liu
Zhongtao Gai
spellingShingle Ning Liu
Xiaomeng Yang
Sulan Wang
Rui Dong
Yue Li
Yuqiang Lv
Yi Liu
Zhongtao Gai
PBMC-derived integration-free iPSCs line SDQLCHi039-A from a patient with X-linked agammaglobulinemia carrying a novel 9-bp in-frame deletion in BTK gene
Stem Cell Research
author_facet Ning Liu
Xiaomeng Yang
Sulan Wang
Rui Dong
Yue Li
Yuqiang Lv
Yi Liu
Zhongtao Gai
author_sort Ning Liu
title PBMC-derived integration-free iPSCs line SDQLCHi039-A from a patient with X-linked agammaglobulinemia carrying a novel 9-bp in-frame deletion in BTK gene
title_short PBMC-derived integration-free iPSCs line SDQLCHi039-A from a patient with X-linked agammaglobulinemia carrying a novel 9-bp in-frame deletion in BTK gene
title_full PBMC-derived integration-free iPSCs line SDQLCHi039-A from a patient with X-linked agammaglobulinemia carrying a novel 9-bp in-frame deletion in BTK gene
title_fullStr PBMC-derived integration-free iPSCs line SDQLCHi039-A from a patient with X-linked agammaglobulinemia carrying a novel 9-bp in-frame deletion in BTK gene
title_full_unstemmed PBMC-derived integration-free iPSCs line SDQLCHi039-A from a patient with X-linked agammaglobulinemia carrying a novel 9-bp in-frame deletion in BTK gene
title_sort pbmc-derived integration-free ipscs line sdqlchi039-a from a patient with x-linked agammaglobulinemia carrying a novel 9-bp in-frame deletion in btk gene
publisher Elsevier
series Stem Cell Research
issn 1873-5061
publishDate 2021-03-01
description X-linked agammaglobulinemia (XLA, OMIM #300755) is one of the most common pediatric primary immunodeficiencies characterized by failure to produce mature B lymphocytes and hypogammaglobulinemia, caused by mutation of the gene encoding Bruton's tyrosine kinase (BTK, OMIM *300300), a key regulator in B-cell development. Patients suffering XLA are prone to recurrent bacterial infection. We established an induced pluripotent stem cells (iPSCs) line from a 3-year-5-month-old boy with XLA caused by a hemizygous in-frame 9-bp deletion in BTK (c.1530-1538delATACCTGGA, p.Y510_E513delEYLEinsE). The iPSCs was verified based on pluripotency markers, original gene mutation and demonstrated trilineage differentiation potential in vitro.
url http://www.sciencedirect.com/science/article/pii/S1873506121000118
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