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

作者全名："Fang, Shuyu; Zeng, Anle; Xu, Qiling; Zhou, Lina; Zhang, Zhiyong; An, Yunfei; Zhao, Xiaodong"

作者地址："[Fang, Shuyu; Zeng, Anle; Xu, Qiling; Zhou, Lina; Zhang, Zhiyong; An, Yunfei; Zhao, Xiaodong] Chongqing Med Univ, Natl Clin Res Ctr Child Hlth & Disorders, Dept Pediat Res Inst,China Int Sci & Technol Coop, Minist Educ,Key Lab Child Dev & Disorders,Childre, Chongqing, Peoples R China; [Fang, Shuyu; Zeng, Anle; Xu, Qiling; Zhou, Lina; Zhang, Zhiyong; An, Yunfei; Zhao, Xiaodong] Chongqing Med Univ, Chongqing Key Lab Child Infect & Immun, Childrens Hosp, Chongqing 400014, Peoples R China; [Fang, Shuyu; Zeng, Anle; Xu, Qiling; Zhou, Lina; Zhang, Zhiyong; An, Yunfei; Zhao, Xiaodong] Chongqing Med Univ, Dept Rheumatol & Immunol, Childrens Hosp, Chongqing 400014, Peoples R China"

通信作者："An, YF; Zhao, XD (通讯作者)，Chongqing Med Univ, Natl Clin Res Ctr Child Hlth & Disorders, Dept Pediat Res Inst,China Int Sci & Technol Coop, Minist Educ,Key Lab Child Dev & Disorders,Childre, Chongqing, Peoples R China."

来源：STEM CELL RESEARCH

ESI学科分类：MOLECULAR BIOLOGY & GENETICS

WOS号：WOS:000835085500006

JCR分区：Q4

影响因子：1.2

年份：2022

卷号：62

期号：　

开始页：　

结束页：　

文献类型：Article

关键词：　

摘要："Activated phosphoinositide 3-kinase delta 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."

基金机构：Special Fund for the Central Government to Guide Local Science and Technology Development [2019-12-23]; Chongqing Technology Innovation and Application Demonstration [cstc2018jscx-msybX0005]; Future Medical Youth Innovation Team Development Support Program of CQMU

基金资助正文："This work was supported by Special Fund for the Central Govern- ment to Guide Local Science and Technology Development (2019-12- 23) , Chongqing Technology Innovation and Application Demonstration (cstc2018jscx-msybX0005) and Future Medical Youth Innovation Team Development Support Program of CQMU."