Establishment of a non-integrated iPSC (SDQLCHi068-A) line derived from a patient with autosomal dominant immunodeficiency-14A carrying a heterozygous mutation (c.3061G>A) in PIK3CD gene

• Published in: Stem cell research Vol. 77; p. 103385
• Main Authors: Xin, Hongmei, Lv, Yuqiang, Wei, Xuxia, Song, Wei, Li, Zilong, Liu, Yi, Gai, Zhongtao
• Format: Journal Article
• Language: English
• Published: England Elsevier B.V 01.06.2024; Elsevier
• Subjects: Cell Differentiation; Cell Line; Child, Preschool; Class I Phosphatidylinositol 3-Kinases - genetics; Class I Phosphatidylinositol 3-Kinases - metabolism; Heterozygote; Humans; Immunologic Deficiency Syndromes - genetics; Induced Pluripotent Stem Cells - metabolism; Male; Mutation
• ISSN: 1873-5061; 1876-7753; 1876-7753
• DOI: 10.1016/j.scr.2024.103385

Phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta (PIK3CD) gene (OMIM#602839) encodes the p110δ catalytic subunit, mainly expressed in immune cells, and is associated with autosomal dominant immunodeficiency-14A with lymphoproliferation (IMD14A, #615513). We generated a human iPS cell line from a 50-month-old boy with IMD14A carrying a heterozygous mutation (c.3061G>A, p.E1021K) in PIK3CD gene. This cell line retains the original mutation site and shows differentiation potential towards three germ layers in vitro, which can be used as a disease model for research.