Establishment of induced pluripotent stem cell lines from an ARVC patient carrying a heterozygous variant in LAMA2 gene
Using peripheral blood mononuclear cell (PBMC) reprogramming technology, a human-induced pluripotent stem cell (iPSC) line was produced from a patient who presents classic clinical features of arrhythmogenic right ventricular cardiomyopathy (ARVA) and carries a de novo laminin subunit alpha 2 (LAMA2...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2023-02-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506122003488 |
| _version_ | 1828067481835536384 |
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| author | Yue Wang Yibing Fang Yabo Wang Shutao Xia Donghui Zhang Qi An Yifei Li Shuhua Luo |
| author_facet | Yue Wang Yibing Fang Yabo Wang Shutao Xia Donghui Zhang Qi An Yifei Li Shuhua Luo |
| author_sort | Yue Wang |
| collection | DOAJ |
| description | Using peripheral blood mononuclear cell (PBMC) reprogramming technology, a human-induced pluripotent stem cell (iPSC) line was produced from a patient who presents classic clinical features of arrhythmogenic right ventricular cardiomyopathy (ARVA) and carries a de novo laminin subunit alpha 2 (LAMA2) heterozygous mutation (NM_000426.3: c.8842G > A, p.G2948S). This mutation was not inherited from his parents, who also present normal cardiac phenotype. This iPSC line demonstrates a normal karyotype. Pluripotency and differentiation capacity has been confirmed in vitro. This cell line can help in efforts to understand the pathogenic mechanism between LAMA2 mutation and ARVC. |
| first_indexed | 2024-04-10T23:46:10Z |
| format | Article |
| id | doaj.art-a88d8f98e7724c7194bd38890e6b8e1f |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-04-10T23:46:10Z |
| publishDate | 2023-02-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-a88d8f98e7724c7194bd38890e6b8e1f2023-01-11T04:28:30ZengElsevierStem Cell Research1873-50612023-02-0166102999Establishment of induced pluripotent stem cell lines from an ARVC patient carrying a heterozygous variant in LAMA2 geneYue Wang0Yibing Fang1Yabo Wang2Shutao Xia3Donghui Zhang4Qi An5Yifei Li6Shuhua Luo7Department of Cardiovascular Surgery, West China Hospital, Sichuan University Chengdu, Sichuan 610041, ChinaDepartment of Cardiovascular Surgery, The Southwest Hospital of Army Medical University, Chongqing 400000, ChinaDepartment of Cardiovascular Surgery, West China Hospital, Sichuan University Chengdu, Sichuan 610041, ChinaState Key Laboratory of Biocatalysis and Enzyme Engineering, School of Life Science, Hubei University, Wuhan, Hubei 430062, ChinaaState Key Laboratory of Biocatalysis and Enzyme Engineering, School of Life Science, Hubei University, Wuhan, Hubei 430062, ChinaaDepartment of Cardiovascular Surgery, West China Hospital, Sichuan University Chengdu, Sichuan 610041, ChinaKey Laboratory of Birth Defects and Related Diseases of Women and Children of MOE, Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan 610041, China; Corresponding authors at: Department of Cardiovascular Surgery, Pediatric Heart Center, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China (S. Luo).Department of Cardiovascular Surgery, West China Hospital, Sichuan University Chengdu, Sichuan 610041, China; Corresponding authors at: Department of Cardiovascular Surgery, Pediatric Heart Center, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China (S. Luo).Using peripheral blood mononuclear cell (PBMC) reprogramming technology, a human-induced pluripotent stem cell (iPSC) line was produced from a patient who presents classic clinical features of arrhythmogenic right ventricular cardiomyopathy (ARVA) and carries a de novo laminin subunit alpha 2 (LAMA2) heterozygous mutation (NM_000426.3: c.8842G > A, p.G2948S). This mutation was not inherited from his parents, who also present normal cardiac phenotype. This iPSC line demonstrates a normal karyotype. Pluripotency and differentiation capacity has been confirmed in vitro. This cell line can help in efforts to understand the pathogenic mechanism between LAMA2 mutation and ARVC.http://www.sciencedirect.com/science/article/pii/S1873506122003488 |
| spellingShingle | Yue Wang Yibing Fang Yabo Wang Shutao Xia Donghui Zhang Qi An Yifei Li Shuhua Luo Establishment of induced pluripotent stem cell lines from an ARVC patient carrying a heterozygous variant in LAMA2 gene Stem Cell Research |
| title | Establishment of induced pluripotent stem cell lines from an ARVC patient carrying a heterozygous variant in LAMA2 gene |
| title_full | Establishment of induced pluripotent stem cell lines from an ARVC patient carrying a heterozygous variant in LAMA2 gene |
| title_fullStr | Establishment of induced pluripotent stem cell lines from an ARVC patient carrying a heterozygous variant in LAMA2 gene |
| title_full_unstemmed | Establishment of induced pluripotent stem cell lines from an ARVC patient carrying a heterozygous variant in LAMA2 gene |
| title_short | Establishment of induced pluripotent stem cell lines from an ARVC patient carrying a heterozygous variant in LAMA2 gene |
| title_sort | establishment of induced pluripotent stem cell lines from an arvc patient carrying a heterozygous variant in lama2 gene |
| url | http://www.sciencedirect.com/science/article/pii/S1873506122003488 |
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