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Establishment of pluripotent stem cell line induced by PATL2 heterozygous mutation in patients with oocyte maturation
Nairui Xue1, Yibing Wang1, Xuan Xu1
1Reproductive Medicine Center, Department of Obstetrics and Gynecology, First Affiliated Hospital of Anhui Medical University, No 218 Jixi Road, Hefei 230022, Anhui, China; Anhui Province Key Laboratory of Reproductive Health and Genetics, Anhui Medical University, No 81 Meishan Road, Hefei 230032, Anhui, China; NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract (Anhui Medical University), No 81 Meishan Road, Hefei 230032, Anhui, China.
Abstract:
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.
Insights
Oocyte maturation defect-4 (OOMD4) is caused by PATL2 gene mutations. Induced pluripotent stem cells (iPSCs) were generated from a patient, demonstrating pluripotency and potential for OOMD4 research and therapeutic target identification.
Area of Science:
- Reproductive Biology
- Stem Cell Biology
- Human Genetics
Background:
- Oocyte maturation defect-4 (OOMD4) is an autosomal recessive disorder.
- OOMD4 is linked to mutations in the PATL2 gene on chromosome 15q21.
- The condition is characterized by oocyte maturation arrest.
Purpose of the Study:
- To generate and characterize induced pluripotent stem cells (iPSCs) from a patient with OOMD4.
- To establish a cellular model for studying OOMD4 pathogenesis.
- To explore potential therapeutic strategies for OOMD4.
Main Methods:
- Peripheral blood mononuclear cells (PBMCs) were collected from a heterozygous OOMD4 patient.
- iPSCs were generated using episomal vectors and reprogramming transcription factors.
- Teratoma assays were performed to assess pluripotency and differentiation capacity.
- Karyotyping was conducted to confirm chromosomal stability.
Main Results:
- A patient-derived iPSC line was successfully established.
- The iPSC line demonstrated pluripotency, differentiating into ectoderm, mesoderm, and endoderm.
- Positive expression of germ layer markers (TUJ, SMA, AFP) was confirmed.
- A normal female karyotype (46, XX) was observed in the iPSC line.
Conclusions:
- Patient-derived iPSCs are a valuable tool for OOMD4 research.
- These iPSCs can be used to create disease models.
- The iPSC line facilitates the identification of potential therapeutic targets for OOMD4.
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