Generation of an iPSC line (CHSUi001-A) from a patient with JAK3 gene mutations

Abstract

This study describes the establishment of an induced pluripotent stem cell (iPSC) line derived from a patient harboring two heterozygous JAK3 gene mutations: c.1914G > T and c.1048C > T. The iPSCs were generated via non-integrating episomal vector-mediated reprogramming of peripheral blood mononuclear cells (PBMCs), expressing OCT4, SOX2, KLF4, BCL-XL and c-MYC. The resulting iPSCs exhibited robust expression of pluripotency markers, demonstrated trilineage differentiation potential in vitro, and maintained a normal karyotype. This iPSC line serves as a valuable resource for elucidating the molecular mechanisms underlying JAK3-associated immunodeficiencies and for preclinical drug screening.