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

Shuyu Fang; Anle Zeng; Qiling Xu; Lina Zhou; Zhiyong Zhang; Yunfei An; Xiaodong Zhao

doi:10.1016/j.scr.2022.102822

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

Stem Cell Res. 2022 Jul:62:102822. doi: 10.1016/j.scr.2022.102822. Epub 2022 May 31.

Authors

Shuyu Fang¹, Anle Zeng¹, Qiling Xu¹, Lina Zhou¹, Zhiyong Zhang¹, Yunfei An², Xiaodong Zhao³

Affiliations

¹ Department of Pediatric Research Institute, Ministry of Education Key Laboratory of Child Development and Disorders, National Clinical Research Center for Child Health and Disorders, China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Children's Hospital of Chongqing Medical University, Chongqing, People's Republic of China; Chongqing Key Laboratory of Child Infection and Immunity, Children's Hospital of Chongqing Medical University, Chongqing 400014, People's Republic of China; Department of Rheumatology and Immunology, Children's Hospital of Chongqing Medical University, Chongqing 400014, People's Republic of China.
² Department of Pediatric Research Institute, Ministry of Education Key Laboratory of Child Development and Disorders, National Clinical Research Center for Child Health and Disorders, China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Children's Hospital of Chongqing Medical University, Chongqing, People's Republic of China; Chongqing Key Laboratory of Child Infection and Immunity, Children's Hospital of Chongqing Medical University, Chongqing 400014, People's Republic of China; Department of Rheumatology and Immunology, Children's Hospital of Chongqing Medical University, Chongqing 400014, People's Republic of China. Electronic address: [email protected].
³ Department of Pediatric Research Institute, Ministry of Education Key Laboratory of Child Development and Disorders, National Clinical Research Center for Child Health and Disorders, China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Children's Hospital of Chongqing Medical University, Chongqing, People's Republic of China; Chongqing Key Laboratory of Child Infection and Immunity, Children's Hospital of Chongqing Medical University, Chongqing 400014, People's Republic of China; Department of Rheumatology and Immunology, Children's Hospital of Chongqing Medical University, Chongqing 400014, People's Republic of China. Electronic address: [email protected].

PMID: 35660815
DOI: 10.1016/j.scr.2022.102822

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Class I Phosphatidylinositol 3-Kinases / genetics
Class I Phosphatidylinositol 3-Kinases / metabolism
Humans
Induced Pluripotent Stem Cells* / metabolism
Leukocytes, Mononuclear
Mutation
Phosphatidylinositol 3-Kinase / genetics
Phosphatidylinositol 3-Kinase / metabolism
Phosphatidylinositol 3-Kinases / metabolism
Syndrome

Substances

Class I Phosphatidylinositol 3-Kinases
Phosphatidylinositol 3-Kinase