Researchers generated an induced pluripotent hemophilia B stem cell line that has characteristics similar to human embryonic stem cells such as pluripotency and the potential to differentiate into 3 germ layers.

“This cell line can be used as a disease model for exploring the molecular mechanism and readthrough treatment of [hemophilia B],” they wrote in a study published in Stem Cell Research.

The cell line was generated using cells in the urine of a patient with hemophilia B who carries a variant F9 c.223C>T (p.R75X), which is a nonsense mutation. The team reprogrammed the urine cells using the reprogramming factors, octamer-binding transcription factor 4, sex-determining region Y-box 2, m-MYC, and kruppel-like factor 4.


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They confirmed that the cell line was free from mycoplasma contamination using mycoplasma detection and that it was not contaminated by other cells using short tandem repeat analysis.

Read more about hemophilia etiology

Hemophilia B is characterized by factor IX deficiency, which is an essential protein for proper blood clotting. It is caused by a mutation in the gene encoding factor IX, which resides on the X chromosome. The disease, therefore, affects males while females can be carriers.

The symptoms of hemophilia B include prolonged bleeding, which can occur in joints and muscles or externally. There is currently no cure for any type of hemophilia and patients can be treated with replacement therapy where the deficient clotting factor is infused intravenously.

Researchers are also working on potential new treatments for hemophilia including gene therapy and premature stop codon readthrough. However, it is difficult to study these on patients or animal models due to species differences.

“These [induced pluripotent stem cells] can be used as a disease model with great potential,” the authors concluded, from the Second Hospital of Shanxi Medical University in Taiyuan, China.

Reference

Ma Y, Sun W, Liu X, et al. Generation an induced pluripotent stem cell line SXMUi001-A derived from a hemophilia B patient carries variant F9 c.223C>T(p.R75X). Stem Cell Res. Published online January 31, 2022. doi:10.1016/j.scr.2022.102684