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...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2021-08-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506121003494 |
| _version_ | 1818647352741724160 |
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| author | Tian Zhu Shijing Wu Zixi Sun Xing Wei Xiaoxu Han Xuan Zou Ruifang Sui |
| author_facet | Tian Zhu Shijing Wu Zixi Sun Xing Wei Xiaoxu Han Xuan Zou Ruifang Sui |
| author_sort | Tian Zhu |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-12-17T01:01:10Z |
| format | Article |
| id | doaj.art-52c6da94a6d8453ca81601e7b8518b47 |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-12-17T01:01:10Z |
| publishDate | 2021-08-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-52c6da94a6d8453ca81601e7b8518b472022-12-21T22:09:26ZengElsevierStem 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 |
| 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 |
| title | 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_short | 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 |
| url | http://www.sciencedirect.com/science/article/pii/S1873506121003494 |
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