Generate an AZFa deleted human embryonic stem cell line

Yuting Zhen; Qina He; Chao Sun; Yanlin Ma; Qi Li; Luan Wen

doi:10.1016/j.scr.2024.103436

Generate an AZFa deleted human embryonic stem cell line

Stem Cell Res. 2024 May 3:77:103436. doi: 10.1016/j.scr.2024.103436. Online ahead of print.

Authors

Yuting Zhen¹, Qina He², Chao Sun², Yanlin Ma², Qi Li³, Luan Wen⁴

Affiliations

¹ Key Laboratory of Tropical Translational Medicine of Ministry of Education & Key Laboratory of Brain Science Research Transformation in Tropical Environment of Hainan Province, School of Basic Medicine and Life Sciences, Hainan Medical University, China; Hainan Provincial Key Laboratory for human reproductive medicine and Genetic Research, Key Laboratory of Reproductive Health Diseases Research and Translation (Hainan Medical University), Ministry of Education, The First Affiliated Hospital of Hainan Medical University, Hainan Medical University, Haikou, Hainan, 571101, China; Department of Reproductive Medicine, Hainan Provincial Clinical Research Center for Thalassemia, The First Affiliated Hospital of Hainan Medical University, Hainan Medical University, Haikou, Hainan 571101, China; National Center for International Research "China-Myanmar Joint Research Center for Prevention and Treatment of Regional Major Disease" by the Ministry of Science and Technology of China, Haikou, Hainan 571101, China; Haikou Key Laboratory for Preservation of Human Genetic Resource, The First Affiliated Hospital of Hainan Medical University, Hainan Medical University, Haikou, Hainan 571101, China.
² Hainan Provincial Key Laboratory for human reproductive medicine and Genetic Research, Key Laboratory of Reproductive Health Diseases Research and Translation (Hainan Medical University), Ministry of Education, The First Affiliated Hospital of Hainan Medical University, Hainan Medical University, Haikou, Hainan, 571101, China; Department of Reproductive Medicine, Hainan Provincial Clinical Research Center for Thalassemia, The First Affiliated Hospital of Hainan Medical University, Hainan Medical University, Haikou, Hainan 571101, China; National Center for International Research "China-Myanmar Joint Research Center for Prevention and Treatment of Regional Major Disease" by the Ministry of Science and Technology of China, Haikou, Hainan 571101, China; Haikou Key Laboratory for Preservation of Human Genetic Resource, The First Affiliated Hospital of Hainan Medical University, Hainan Medical University, Haikou, Hainan 571101, China.
³ Hainan Provincial Key Laboratory for human reproductive medicine and Genetic Research, Key Laboratory of Reproductive Health Diseases Research and Translation (Hainan Medical University), Ministry of Education, The First Affiliated Hospital of Hainan Medical University, Hainan Medical University, Haikou, Hainan, 571101, China; Department of Reproductive Medicine, Hainan Provincial Clinical Research Center for Thalassemia, The First Affiliated Hospital of Hainan Medical University, Hainan Medical University, Haikou, Hainan 571101, China; National Center for International Research "China-Myanmar Joint Research Center for Prevention and Treatment of Regional Major Disease" by the Ministry of Science and Technology of China, Haikou, Hainan 571101, China; Haikou Key Laboratory for Preservation of Human Genetic Resource, The First Affiliated Hospital of Hainan Medical University, Hainan Medical University, Haikou, Hainan 571101, China. Electronic address: 1315282326@qq.com.
⁴ Key Laboratory of Tropical Translational Medicine of Ministry of Education & Key Laboratory of Brain Science Research Transformation in Tropical Environment of Hainan Province, School of Basic Medicine and Life Sciences, Hainan Medical University, China; Hainan Provincial Key Laboratory for human reproductive medicine and Genetic Research, Key Laboratory of Reproductive Health Diseases Research and Translation (Hainan Medical University), Ministry of Education, The First Affiliated Hospital of Hainan Medical University, Hainan Medical University, Haikou, Hainan, 571101, China; Department of Reproductive Medicine, Hainan Provincial Clinical Research Center for Thalassemia, The First Affiliated Hospital of Hainan Medical University, Hainan Medical University, Haikou, Hainan 571101, China; National Center for International Research "China-Myanmar Joint Research Center for Prevention and Treatment of Regional Major Disease" by the Ministry of Science and Technology of China, Haikou, Hainan 571101, China; Haikou Key Laboratory for Preservation of Human Genetic Resource, The First Affiliated Hospital of Hainan Medical University, Hainan Medical University, Haikou, Hainan 571101, China. Electronic address: luanwen@hainmc.edu.cn.

PMID: 38733811
DOI: 10.1016/j.scr.2024.103436

Abstract

Y chromosome deletion and karyotype abnormalities are commonly associated with congenital non-obstructive azoospermia, impairing spermatogenesis. Specifically, the deletion of the Y chromosome Azoospermia factor a (AZFa) has been identified in infertile males with severely impaired spermatogenesis. AZFa, encompassing megabase-scale of the Y chromosome region, poses challenges in modeling AZFa deletion-related male infertility using gene editing tools. Here, we successfully created an AZFa-deleted human embryonic stem cell line utilizing the CRISPR/Cas9 gene editing tool. Our analysis indicates the AZFa-deleted stem cell line holds promise for differentiation into ectoderm, mesoderm, and endoderm, highlighting its potential for further comprehensive study.