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Generation of human induced pluripotent stem cell line from peripheral blood mononuclear cells from an activated phosphoinositide 3-kinase δ syndrome patient

Authors :
Shuyu Fang
Anle Zeng
Qiling Xu
Lina Zhou
Zhiyong Zhang
Yunfei An
Xiaodong Zhao
Source :
Stem Cell Research, Vol 62, Iss , Pp 102822- (2022)
Publication Year :
2022
Publisher :
Elsevier, 2022.

Abstract

Activated phosphoinositide 3-kinase δ syndrome (APDS) is a rare autosomal dominant primary immunodeficiency disease (PID) which was caused by the acquired mutation of PIK3CD gene. In this study, we generated a human induced pluripotent stem cell (hiPSC) line CHCMUi001-A from the peripheral blood mononuclear cells (PBMCs) of a APDS patient, who has a heterozygous mutation (c.3061 G > A) in the PIK3CD gene. This iPSC line presented a normal karyotype and exhibited characteristics of pluripotent stem cells. This iPSC line can be very useful for not only studying disease mechanisms but also developing new potential clinical treatments for APDS patients.

Subjects

Subjects :
Biology (General)
QH301-705.5

Details

Language :
English
ISSN :
18735061
Volume :
62
Issue :
102822-
Database :
Directory of Open Access Journals
Journal :
Stem Cell Research
Publication Type :
Academic Journal
Accession number :
edsdoj.5a690d697d0a421a9f909c53f27d3167
Document Type :
article
Full Text :
https://doi.org/10.1016/j.scr.2022.102822