Generation of an iPSC line (HUSTi002-A) from fibroblasts of a patient with Sertoli cell-only syndrome carrying c.731_732delAT in PIWIL2 gene
Sertoli cell-only syndrome (SCOS) is a severe phenotype of male infertility; autosomal gene defects are thought to be the causes for this disease. The iPSC line generated from a SCOS patient carrying a mutation in PIWIL2 gene expresses pluripotent markers, has a normal karyotype and the mutation c.7...
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Elsevier
2020-01-01
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Series: | Stem Cell Research |
Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506120300052 |
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author | Xiaotong Wang Shiming Xie Zili Li Zhen Ye Xiuli Gu Liquan Zhou Honggang Li |
author_facet | Xiaotong Wang Shiming Xie Zili Li Zhen Ye Xiuli Gu Liquan Zhou Honggang Li |
author_sort | Xiaotong Wang |
collection | DOAJ |
description | Sertoli cell-only syndrome (SCOS) is a severe phenotype of male infertility; autosomal gene defects are thought to be the causes for this disease. The iPSC line generated from a SCOS patient carrying a mutation in PIWIL2 gene expresses pluripotent markers, has a normal karyotype and the mutation c.731_732delAT in PIWIL2 gene and is able to differentiate into three germ layers. This cell line will help to study the pathogenesis of SCOS, and the roles of PIWIL2 in human germ cells development and spermatogenesis. |
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id | doaj.art-6c87ecc5c53a490c902177b85959fe4a |
institution | Directory Open Access Journal |
issn | 1873-5061 |
language | English |
last_indexed | 2024-12-11T03:35:41Z |
publishDate | 2020-01-01 |
publisher | Elsevier |
record_format | Article |
series | Stem Cell Research |
spelling | doaj.art-6c87ecc5c53a490c902177b85959fe4a2022-12-22T01:22:15ZengElsevierStem Cell Research1873-50612020-01-0142Generation of an iPSC line (HUSTi002-A) from fibroblasts of a patient with Sertoli cell-only syndrome carrying c.731_732delAT in PIWIL2 geneXiaotong Wang0Shiming Xie1Zili Li2Zhen Ye3Xiuli Gu4Liquan Zhou5Honggang Li6Institute of Reproductive Health, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei 430030, ChinaInstitute of Reproductive Health, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei 430030, ChinaInstitute of Reproductive Health, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei 430030, China; Wuhan Tongji Reproductive Medicine Hospital, Wuhan, Hubei 430013, ChinaWuhan Tongji Reproductive Medicine Hospital, Wuhan, Hubei 430013, ChinaWuhan Tongji Reproductive Medicine Hospital, Wuhan, Hubei 430013, ChinaInstitute of Reproductive Health, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei 430030, China; Corresponding authors at: Institute of Reproductive Health, Tongji Medical College, Huazhong University of Science and Technology, 13 Hangkong Road, Wuhan 430030, China.Institute of Reproductive Health, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei 430030, China; Wuhan Tongji Reproductive Medicine Hospital, Wuhan, Hubei 430013, China; Corresponding authors at: Institute of Reproductive Health, Tongji Medical College, Huazhong University of Science and Technology, 13 Hangkong Road, Wuhan 430030, China.Sertoli cell-only syndrome (SCOS) is a severe phenotype of male infertility; autosomal gene defects are thought to be the causes for this disease. The iPSC line generated from a SCOS patient carrying a mutation in PIWIL2 gene expresses pluripotent markers, has a normal karyotype and the mutation c.731_732delAT in PIWIL2 gene and is able to differentiate into three germ layers. This cell line will help to study the pathogenesis of SCOS, and the roles of PIWIL2 in human germ cells development and spermatogenesis.http://www.sciencedirect.com/science/article/pii/S1873506120300052 |
spellingShingle | Xiaotong Wang Shiming Xie Zili Li Zhen Ye Xiuli Gu Liquan Zhou Honggang Li Generation of an iPSC line (HUSTi002-A) from fibroblasts of a patient with Sertoli cell-only syndrome carrying c.731_732delAT in PIWIL2 gene Stem Cell Research |
title | Generation of an iPSC line (HUSTi002-A) from fibroblasts of a patient with Sertoli cell-only syndrome carrying c.731_732delAT in PIWIL2 gene |
title_full | Generation of an iPSC line (HUSTi002-A) from fibroblasts of a patient with Sertoli cell-only syndrome carrying c.731_732delAT in PIWIL2 gene |
title_fullStr | Generation of an iPSC line (HUSTi002-A) from fibroblasts of a patient with Sertoli cell-only syndrome carrying c.731_732delAT in PIWIL2 gene |
title_full_unstemmed | Generation of an iPSC line (HUSTi002-A) from fibroblasts of a patient with Sertoli cell-only syndrome carrying c.731_732delAT in PIWIL2 gene |
title_short | Generation of an iPSC line (HUSTi002-A) from fibroblasts of a patient with Sertoli cell-only syndrome carrying c.731_732delAT in PIWIL2 gene |
title_sort | generation of an ipsc line husti002 a from fibroblasts of a patient with sertoli cell only syndrome carrying c 731 732delat in piwil2 gene |
url | http://www.sciencedirect.com/science/article/pii/S1873506120300052 |
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