Generation of two human induced pluripotent stem cell lines from patients with biallelic USH2A variants

Usher syndrome 2A (USH2A) is one of the most common genes associated with Usher syndrome type II (USH2) and nonsyndromic autosomal recessive retinitis pigmentosa (arRP). Here, we describe the generation and characterization of two human induced pluripotent stem cell (hiPSC) lines from a RP patient w...

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Main Authors:	Tian Zhu, Shijing Wu, Zixi Sun, Xing Wei, Xiaoxu Han, Xuan Zou, Ruifang Sui
Format:	Article
Language:	English
Published:	Elsevier 2021-08-01
Series:	Stem Cell Research
Online Access:	http://www.sciencedirect.com/science/article/pii/S1873506121003494

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spelling	doaj-52c6da94a6d8453ca81601e7b8518b472021-09-11T04:28:30ZengElsevierStem Cell Research1873-50612021-08-0155102502Generation of two human induced pluripotent stem cell lines from patients with biallelic USH2A variantsTian Zhu0Shijing Wu1Zixi Sun2Xing Wei3Xiaoxu Han4Xuan Zou5Ruifang Sui6Department of Ophthalmology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, ChinaDepartment of Ophthalmology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, ChinaDepartment of Ophthalmology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, ChinaDepartment of Ophthalmology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, ChinaDepartment of Ophthalmology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, ChinaDepartment of Ophthalmology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, ChinaCorresponding author.; Department of Ophthalmology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, ChinaUsher syndrome 2A (USH2A) is one of the most common genes associated with Usher syndrome type II (USH2) and nonsyndromic autosomal recessive retinitis pigmentosa (arRP). Here, we describe the generation and characterization of two human induced pluripotent stem cell (hiPSC) lines from a RP patient with compound heterogeneous USH2A variants and a USH2 patient with homozygous USH2A variant. Blood samples were obtained and peripheral blood mononuclear cells (PBMCs) were reprogrammed using the non-integrative Sendai virus to generate the iPSC lines. The established hiPSC lines retained the disease-associated variants and showed normal karyotype, pluripotency and differentiation capacity.http://www.sciencedirect.com/science/article/pii/S1873506121003494
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	Tian Zhu Shijing Wu Zixi Sun Xing Wei Xiaoxu Han Xuan Zou Ruifang Sui
spellingShingle	Tian Zhu Shijing Wu Zixi Sun Xing Wei Xiaoxu Han Xuan Zou Ruifang Sui Generation of two human induced pluripotent stem cell lines from patients with biallelic USH2A variants Stem Cell Research
author_facet	Tian Zhu Shijing Wu Zixi Sun Xing Wei Xiaoxu Han Xuan Zou Ruifang Sui
author_sort	Tian Zhu
title	Generation of two human induced pluripotent stem cell lines from patients with biallelic USH2A variants
title_short	Generation of two human induced pluripotent stem cell lines from patients with biallelic USH2A variants
title_full	Generation of two human induced pluripotent stem cell lines from patients with biallelic USH2A variants
title_fullStr	Generation of two human induced pluripotent stem cell lines from patients with biallelic USH2A variants
title_full_unstemmed	Generation of two human induced pluripotent stem cell lines from patients with biallelic USH2A variants
title_sort	generation of two human induced pluripotent stem cell lines from patients with biallelic ush2a variants
publisher	Elsevier
series	Stem Cell Research
issn	1873-5061
publishDate	2021-08-01
description	Usher syndrome 2A (USH2A) is one of the most common genes associated with Usher syndrome type II (USH2) and nonsyndromic autosomal recessive retinitis pigmentosa (arRP). Here, we describe the generation and characterization of two human induced pluripotent stem cell (hiPSC) lines from a RP patient with compound heterogeneous USH2A variants and a USH2 patient with homozygous USH2A variant. Blood samples were obtained and peripheral blood mononuclear cells (PBMCs) were reprogrammed using the non-integrative Sendai virus to generate the iPSC lines. The established hiPSC lines retained the disease-associated variants and showed normal karyotype, pluripotency and differentiation capacity.
url	http://www.sciencedirect.com/science/article/pii/S1873506121003494
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Generation of two human induced pluripotent stem cell lines from patients with biallelic USH2A variants

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