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 regulator in B-cell development. Patientssuffering XLA are prone to recurrentbacterial 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. Copyright © 2021. Published by Elsevier B.V.

Authors Liu N, Yang X, Wang S, Dong R, Li Y, Lv Y, Liu Y, Gai Z
Journal Stem cell research
Publication Date 2021 Mar;51:102165
PubMed 33453577
DOI 10.1016/j.scr.2021.102165

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