Establishment of an induced pluripotent stem cell line (ZZUPMCi001-A) derived from peripheral blood mononuclear cells in a patient with type 1 Waardenburg syndrome

Waardenburg syndrome type I (WS1) is a human autosomal dominant genetic disease characterized by sensorineural hearing loss, pigmentary abnormalities, and dystopia canthorum. In this study, we generated an induced pluripotent stem cell (iPSC) line using non-integrative Sendai viral reprogramming tec...

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Autores principales:	Xiaoxuan Wang, Sen Zhang, Sang Hu, Hongen Xu, Qi Zhang, Wenxue Tang
Formato:	article
Lenguaje:	EN
Publicado:	Elsevier 2021
Materias:	Biology (General) QH301-705.5
Acceso en línea:	https://doaj.org/article/ba114bfc931847b8ae61575b4b06d44f
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spelling	oai:doaj.org-article:ba114bfc931847b8ae61575b4b06d44f2021-12-04T04:33:28ZEstablishment of an induced pluripotent stem cell line (ZZUPMCi001-A) derived from peripheral blood mononuclear cells in a patient with type 1 Waardenburg syndrome1873-506110.1016/j.scr.2021.102606https://doaj.org/article/ba114bfc931847b8ae61575b4b06d44f2021-12-01T00:00:00Zhttp://www.sciencedirect.com/science/article/pii/S1873506121004530https://doaj.org/toc/1873-5061Waardenburg syndrome type I (WS1) is a human autosomal dominant genetic disease characterized by sensorineural hearing loss, pigmentary abnormalities, and dystopia canthorum. In this study, we generated an induced pluripotent stem cell (iPSC) line using non-integrative Sendai viral reprogramming technology from the peripheral blood mononuclear cells (PBMCs) of a 29-year-old woman affected with WS1, caused by a heterozygous frameshift mutation in the PAX3 (NM_181459.4:c.123del). This iPSC line carrying the same mutation displays a nomal karyotype, expresses pluripotent markers, and shows differentiation capacity in vitro.Xiaoxuan WangSen ZhangSang HuHongen XuQi ZhangWenxue TangElsevierarticleBiology (General)QH301-705.5ENStem Cell Research, Vol 57, Iss , Pp 102606- (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Biology (General) QH301-705.5
spellingShingle	Biology (General) QH301-705.5 Xiaoxuan Wang Sen Zhang Sang Hu Hongen Xu Qi Zhang Wenxue Tang Establishment of an induced pluripotent stem cell line (ZZUPMCi001-A) derived from peripheral blood mononuclear cells in a patient with type 1 Waardenburg syndrome
description	Waardenburg syndrome type I (WS1) is a human autosomal dominant genetic disease characterized by sensorineural hearing loss, pigmentary abnormalities, and dystopia canthorum. In this study, we generated an induced pluripotent stem cell (iPSC) line using non-integrative Sendai viral reprogramming technology from the peripheral blood mononuclear cells (PBMCs) of a 29-year-old woman affected with WS1, caused by a heterozygous frameshift mutation in the PAX3 (NM_181459.4:c.123del). This iPSC line carrying the same mutation displays a nomal karyotype, expresses pluripotent markers, and shows differentiation capacity in vitro.
format	article
author	Xiaoxuan Wang Sen Zhang Sang Hu Hongen Xu Qi Zhang Wenxue Tang
author_facet	Xiaoxuan Wang Sen Zhang Sang Hu Hongen Xu Qi Zhang Wenxue Tang
author_sort	Xiaoxuan Wang
title	Establishment of an induced pluripotent stem cell line (ZZUPMCi001-A) derived from peripheral blood mononuclear cells in a patient with type 1 Waardenburg syndrome
title_short	Establishment of an induced pluripotent stem cell line (ZZUPMCi001-A) derived from peripheral blood mononuclear cells in a patient with type 1 Waardenburg syndrome
title_full	Establishment of an induced pluripotent stem cell line (ZZUPMCi001-A) derived from peripheral blood mononuclear cells in a patient with type 1 Waardenburg syndrome
title_fullStr	Establishment of an induced pluripotent stem cell line (ZZUPMCi001-A) derived from peripheral blood mononuclear cells in a patient with type 1 Waardenburg syndrome
title_full_unstemmed	Establishment of an induced pluripotent stem cell line (ZZUPMCi001-A) derived from peripheral blood mononuclear cells in a patient with type 1 Waardenburg syndrome
title_sort	establishment of an induced pluripotent stem cell line (zzupmci001-a) derived from peripheral blood mononuclear cells in a patient with type 1 waardenburg syndrome
publisher	Elsevier
publishDate	2021
url	https://doaj.org/article/ba114bfc931847b8ae61575b4b06d44f
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Establishment of an induced pluripotent stem cell line (ZZUPMCi001-A) derived from peripheral blood mononuclear cells in a patient with type 1 Waardenburg syndrome

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