Establishment of pluripotent stem cell line induced by PATL2 heterozygous mutation in patients with oocyte maturation defect-4.

Oocyte maturation defect-4 (OOMD4) is an autosomal recessive disease characterized by oocyte maturation arrest. On chromosome 15q21, the PATL2 gene is mutated, resulting in OOMD4 in either a homozygous or compound heterozygous form. Herein, the peripheral blood mononuclear cells (PBMCs) were obtained from a female patient who was heterozygous for OOMD4 due to a PALT2 gene mutation. Then we obtained the induced pluripotent stem cell (iPSC) by using episomal vectors with transcription factors for reprogramming. The teratoma assay revealed that the iPSC line exhibited pluripotency with the ability to differentiate into three germ layers, namely ectoderm, mesoderm, and endoderm, with positive expression of their markers, such as TUJ, SMA, and AFP, respectively. Furthermore, a normal karyotype (46, XX) was observed. In this view, iPSCs can be a valuable tool for conducting extensive research on the OOMD4, establishing models, and identifying potential therapeutic targets.