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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Bibliographic Details
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
Description
Summary: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.
ISSN:1873-5061

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