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
Summary
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. Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Xin H, Lv Y, Wei X, Song W, Li Z, Liu Y, Gai Z |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Jun;77:103385 |
| PubMed | 38507881 |
| DOI | 10.1016/j.scr.2024.103385 |