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


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. Copyright © 2022 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Fang S, Zeng A, Xu Q, Zhou L, Zhang Z, An Y, Zhao X
Journal Stem cell research
Publication Date 2022 Jul;62:102822
PubMed 35660815
DOI 10.1016/j.scr.2022.102822

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