Generation of human induced pluripotent stem cell (SKLRMi001-A) from a patient with partial androgen insensitivity syndrome (PAIS)

Junqing Chen; Xiaoyu Yang; Bifei Fu; Pinmou Zhu; Yunfei Zhu; Xuejiang Guo; Jiahao Sha; Yan Yuan

Stem Cell Research (Jul 2020)

Generation of human induced pluripotent stem cell (SKLRMi001-A) from a patient with partial androgen insensitivity syndrome (PAIS)

Junqing Chen,
Xiaoyu Yang,
Bifei Fu,
Pinmou Zhu,
Yunfei Zhu,
Xuejiang Guo,
Jiahao Sha,
Yan Yuan

Affiliations

Junqing Chen: State Key Laboratory of Reproductive Medicine, Department of Histology and Embryology, Nanjing Medical University, 211166 Nanjing, Jiangsu, China
Xiaoyu Yang: State Key Laboratory of Reproductive Medicine, Clinical Center of Reproductive Medicine, First Affiliated Hospital of Nanjing Medical University, Nanjing Medical University, 210029 Nanjing, Jiangsu, China
Bifei Fu: State Key Laboratory of Reproductive Medicine, Department of Histology and Embryology, Nanjing Medical University, 211166 Nanjing, Jiangsu, China
Pinmou Zhu: State Key Laboratory of Reproductive Medicine, Department of Histology and Embryology, Nanjing Medical University, 211166 Nanjing, Jiangsu, China
Yunfei Zhu: State Key Laboratory of Reproductive Medicine, Department of Histology and Embryology, Nanjing Medical University, 211166 Nanjing, Jiangsu, China
Xuejiang Guo: State Key Laboratory of Reproductive Medicine, Department of Histology and Embryology, Nanjing Medical University, 211166 Nanjing, Jiangsu, China
Jiahao Sha: State Key Laboratory of Reproductive Medicine, Department of Histology and Embryology, Nanjing Medical University, 211166 Nanjing, Jiangsu, China; Corresponding authors.
Yan Yuan: State Key Laboratory of Reproductive Medicine, Department of Histology and Embryology, Nanjing Medical University, 211166 Nanjing, Jiangsu, China; Corresponding authors.

Journal volume & issue: Vol. 46
p. 101863

Abstract

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Androgen receptor (AR) is essential for maintaining normal spermatogenesis and male fertility, and its mutation can cause complete or partial androgen insensitivity syndrome (CAIS or PAIS) in patients. We established an induced pluripotent stem cell line (SKLRMi001-A) from a PAIS patient with AR mutation (c.2710G > A; p. V904M). The iPSC line expressed pluripotency markers, retained normal karyotype, carried the mutation, showed capability of differentiating into three germ layers and was absence of mycoplasma infection. The iPSC line will help to further elucidate the pathogenic mechanisms of AR mutation, and benefit treatment for PAIS in the future.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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