Generation of a human induced pluripotent stem cell line (SMUSHi001-A) from a patient with 46, XX male sex reversal syndrome carrying the SRY gene

Rui Yan; Suihan Wu; Wenxuan Wang; Meng Chu; Pengyu Liu

doi:10.1016/j.scr.2021.102397

Generation of a human induced pluripotent stem cell line (SMUSHi001-A) from a patient with 46, XX male sex reversal syndrome carrying the SRY gene

Stem Cell Res. 2021 Jul:54:102397. doi: 10.1016/j.scr.2021.102397. Epub 2021 May 24.

Authors

Rui Yan¹, Suihan Wu², Wenxuan Wang³, Meng Chu⁴, Pengyu Liu⁵

Affiliations

¹ Shenzhen Key Laboratory of Viral Oncology, The Clinical Innovation & Research Centre, Shenzhen Hospital, Southern Medical University, Shenzhen 518110, China; Central Laboratory, Shenzhen Baoan Women's and Children's Hospital, Jinan University, Shenzhen 518102, China.
² Department of Obstetrics, Qingdao Municipal Hospital, Qingdao 266001, China.
³ Shenzhen Key Laboratory of Viral Oncology, The Clinical Innovation & Research Centre, Shenzhen Hospital, Southern Medical University, Shenzhen 518110, China; Department of Urology, People's Hospital of Hainan Province, Hainan Affiliated Hospital of Hainan Medical University Haikou, Haikou, Hainan 570311, China.
⁴ Laboratory of iPSC and Disease Models, Cell Inspire Biotechnology Co., Ltd, Shenzhen 518101, China.
⁵ Shenzhen Key Laboratory of Viral Oncology, The Clinical Innovation & Research Centre, Shenzhen Hospital, Southern Medical University, Shenzhen 518110, China. Electronic address: roc_pengyu@smu.edu.cn.

PMID: 34098200
DOI: 10.1016/j.scr.2021.102397

Abstract

The 46, XX male sex reversal syndrome (SRS) is a rare disease with a gender dysplasia phenotype. Scientists concur that SRS is associated with translocation of the sex-determining region Y gene (SRY). We obtained peripheral blood mononuclear cells (PBMCs)from an 18-year-old male with SRS to generate an induced pluripotent stem cell (iPSC) line (SMUSHi001-A). Karyotyping analysis of the patient PBMCs revealed a normal 46, XX karyotype carrying the SRY gene. Pluripotent markers were successfully detected in SMUSHi001-A which can be differentiated into three germ layers in vitro. This cell line will provide a cell model for exploring the pathogenesis and potential therapeutic methods of SRS.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

46, XX Testicular Disorders of Sex Development* / genetics
Adolescent
Genes, sry
Humans
Induced Pluripotent Stem Cells*
Karyotyping
Leukocytes, Mononuclear
Male