Generation of an iPSC line (SMCPGi001-A) from a patient with Bain type X-linked mental retardation syndrome carrying HNRNPH2 gene mutation

Bain type X-linked mental retardation syndrome is an X-linked dominant neurodevelopmental disorder characterized by psychomotor developmental delay and intellectual disability. The rare syndrome is caused by HNRNPH2 gene mutation. In this study, the iPSC cell line (SMCPGi001-A) was acquired by Senda...

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Autores principales:	Xiuwei Ma, Lina Zhu, Wangyang Chen, Min Sheng, Fujun Peng, Ming Liang, Yuxiang Zhao, Yongxia Wang, Zhichun Feng
Formato:	article
Lenguaje:	EN
Publicado:	Elsevier 2021
Materias:	iPSC line HNRNPH2 gene Mental retardation syndrome Biology (General) QH301-705.5
Acceso en línea:	https://doaj.org/article/9b59916815c543018d9793823b61411e
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spelling	oai:doaj.org-article:9b59916815c543018d9793823b61411e2021-11-10T04:22:14ZGeneration of an iPSC line (SMCPGi001-A) from a patient with Bain type X-linked mental retardation syndrome carrying HNRNPH2 gene mutation1873-506110.1016/j.scr.2021.102571https://doaj.org/article/9b59916815c543018d9793823b61411e2021-12-01T00:00:00Zhttp://www.sciencedirect.com/science/article/pii/S1873506121004189https://doaj.org/toc/1873-5061Bain type X-linked mental retardation syndrome is an X-linked dominant neurodevelopmental disorder characterized by psychomotor developmental delay and intellectual disability. The rare syndrome is caused by HNRNPH2 gene mutation. In this study, the iPSC cell line (SMCPGi001-A) was acquired by Sendai virus-mediated iPSC reprogramming from the peripheral blood mononuclear cells (PBMCs) obtained from a 1-year-old girl with de novo p.R206W mutation in the HNRNPH2 gene. The identification experiments of stemness and differentiation potential of three germ layers showed that the cell line had pluripotent stem cell characteristics and the potential of tridermal differentiation.Xiuwei MaLina ZhuWangyang ChenMin ShengFujun PengMing LiangYuxiang ZhaoYongxia WangZhichun FengElsevierarticleiPSC lineHNRNPH2 geneMental retardation syndromeBiology (General)QH301-705.5ENStem Cell Research, Vol 57, Iss , Pp 102571- (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	iPSC line HNRNPH2 gene Mental retardation syndrome Biology (General) QH301-705.5
spellingShingle	iPSC line HNRNPH2 gene Mental retardation syndrome Biology (General) QH301-705.5 Xiuwei Ma Lina Zhu Wangyang Chen Min Sheng Fujun Peng Ming Liang Yuxiang Zhao Yongxia Wang Zhichun Feng Generation of an iPSC line (SMCPGi001-A) from a patient with Bain type X-linked mental retardation syndrome carrying HNRNPH2 gene mutation
description	Bain type X-linked mental retardation syndrome is an X-linked dominant neurodevelopmental disorder characterized by psychomotor developmental delay and intellectual disability. The rare syndrome is caused by HNRNPH2 gene mutation. In this study, the iPSC cell line (SMCPGi001-A) was acquired by Sendai virus-mediated iPSC reprogramming from the peripheral blood mononuclear cells (PBMCs) obtained from a 1-year-old girl with de novo p.R206W mutation in the HNRNPH2 gene. The identification experiments of stemness and differentiation potential of three germ layers showed that the cell line had pluripotent stem cell characteristics and the potential of tridermal differentiation.
format	article
author	Xiuwei Ma Lina Zhu Wangyang Chen Min Sheng Fujun Peng Ming Liang Yuxiang Zhao Yongxia Wang Zhichun Feng
author_facet	Xiuwei Ma Lina Zhu Wangyang Chen Min Sheng Fujun Peng Ming Liang Yuxiang Zhao Yongxia Wang Zhichun Feng
author_sort	Xiuwei Ma
title	Generation of an iPSC line (SMCPGi001-A) from a patient with Bain type X-linked mental retardation syndrome carrying HNRNPH2 gene mutation
title_short	Generation of an iPSC line (SMCPGi001-A) from a patient with Bain type X-linked mental retardation syndrome carrying HNRNPH2 gene mutation
title_full	Generation of an iPSC line (SMCPGi001-A) from a patient with Bain type X-linked mental retardation syndrome carrying HNRNPH2 gene mutation
title_fullStr	Generation of an iPSC line (SMCPGi001-A) from a patient with Bain type X-linked mental retardation syndrome carrying HNRNPH2 gene mutation
title_full_unstemmed	Generation of an iPSC line (SMCPGi001-A) from a patient with Bain type X-linked mental retardation syndrome carrying HNRNPH2 gene mutation
title_sort	generation of an ipsc line (smcpgi001-a) from a patient with bain type x-linked mental retardation syndrome carrying hnrnph2 gene mutation
publisher	Elsevier
publishDate	2021
url	https://doaj.org/article/9b59916815c543018d9793823b61411e
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Generation of an iPSC line (SMCPGi001-A) from a patient with Bain type X-linked mental retardation syndrome carrying HNRNPH2 gene mutation

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