Journal
STEM CELL RESEARCH
Volume 64, Issue -, Pages -Publisher
ELSEVIER
DOI: 10.1016/j.scr.2022.102916
Keywords
-
Funding
- National Natural Science Foundation of China [82071065]
- Major State Basic Research Development Program of China (973 Program) [2014CB541702]
- National Key Research and Development Program of China [2020YFC2005204]
- Hunan Provincial Key Research and Development Program [2020SK2106]
- University of South China [201RGC002]
- Fundamental Research Funds for the Central Universities of Central South University, China [1053320211112]
- China Post- doctoral Science Foundation [2021M693566, 2021T140751]
- science and technology innovation Program of Hunan Province China [2020RC2013]
- Hunan Province Natural Science Foundation [2021JJ41017]
Ask authors/readers for more resources
The study utilized induced pluripotent stem cells (iPSC) to describe the early stages of hearing loss and uncover the phenotypic manifestations of mutations in the SLC26A4 gene. The donors, a couple, had heterozygous mutations in the SLC26A4 gene in their peripheral blood mononuclear cells (PBMCs), which resulted in their children developing Enlarged vestibular aqueduct (EVA).
The human induced pluripotent stem cell (iPSC) lines, CSUXHEi001-A and CSUXHEi002-A, were generated from peripheral blood mononuclear cells (PBMCs). The donors were couple and each of them has a heterozygous mutation in the SLC26A4 gene. It manifests in their children as Enlarged vestibular aqueduct (EVA). The use of iPSC will allow describing the early stages of hearing loss, which is undoubtedly relevant for identifying key stages of development at which phenotypic man-ifestations of mutations in the SLC26A4 gene are found.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available
Share Paper
