Establishment of induced pluripotent stem cell line (ZZUi033-A) of a male with a novel L1CAM missense mutation
L1 cell adhesion molecule (L1CAM) is essential in various processes of neurodevelopment, including neuron migration, axon guidance, and synaptogenesis. Hundreds of L1CAM mutations have been implicated in neurodevelopmental defects, whereas the precise pathogenesis remains to be clarified. Here we ob...
| Main Authors: | , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2022-03-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506122000125 |
| _version_ | 1818954763163664384 |
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| author | Shaohua Li Yunchao Wang Huifang Sun Zhuoya Wang Qi Zhang Yanlin Wang Jing Yang Changhe Shi Yanpeng Yuan Hao Wang Anran Wang Zhengwei Hu Zhuo Li Yuming Xu |
| author_facet | Shaohua Li Yunchao Wang Huifang Sun Zhuoya Wang Qi Zhang Yanlin Wang Jing Yang Changhe Shi Yanpeng Yuan Hao Wang Anran Wang Zhengwei Hu Zhuo Li Yuming Xu |
| author_sort | Shaohua Li |
| collection | DOAJ |
| description | L1 cell adhesion molecule (L1CAM) is essential in various processes of neurodevelopment, including neuron migration, axon guidance, and synaptogenesis. Hundreds of L1CAM mutations have been implicated in neurodevelopmental defects, whereas the precise pathogenesis remains to be clarified. Here we obtained skin fibroblasts from a 6-year-old patient who carried a novel L1CAM missense mutation (p.Ile219Val/c.655A > G), and transformed these fibroblasts into induced pluripotent stem cells (iPSCs) by unintegrated reprogramming techniques. The iPSC line exhibited typical clonal morphology, expressed canonical pluripotent markers, and maintained the missense mutation with normal karyotype. |
| first_indexed | 2024-12-20T10:27:20Z |
| format | Article |
| id | doaj.art-3157c71e7ba74b7aa8a511bcd532eaa7 |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-12-20T10:27:20Z |
| publishDate | 2022-03-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-3157c71e7ba74b7aa8a511bcd532eaa72022-12-21T19:43:47ZengElsevierStem Cell Research1873-50612022-03-0159102663Establishment of induced pluripotent stem cell line (ZZUi033-A) of a male with a novel L1CAM missense mutationShaohua Li0Yunchao Wang1Huifang Sun2Zhuoya Wang3Qi Zhang4Yanlin Wang5Jing Yang6Changhe Shi7Yanpeng Yuan8Hao Wang9Anran Wang10Zhengwei Hu11Zhuo Li12Yuming Xu13Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, 450000 Zhengzhou, Henan, China; Henan Key Laboratory of Cerebrovascular Diseases, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou 450000, Henan, China; Academy of Medical Sciences, Zhengzhou University, Zhengzhou, China; Academy of Medical Sciences of Zhengzhou University Translational Medicine Platform, Zhengzhou 450000, Henan, ChinaDepartment of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, 450000 Zhengzhou, Henan, China; Henan Key Laboratory of Cerebrovascular Diseases, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou 450000, Henan, ChinaDepartment of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, 450000 Zhengzhou, Henan, China; Henan Key Laboratory of Cerebrovascular Diseases, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou 450000, Henan, China; Academy of Medical Sciences, Zhengzhou University, Zhengzhou, ChinaDepartment of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, 450000 Zhengzhou, Henan, China; Henan Key Laboratory of Cerebrovascular Diseases, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou 450000, Henan, ChinaDepartment of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, 450000 Zhengzhou, Henan, China; Henan Key Laboratory of Cerebrovascular Diseases, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou 450000, Henan, China; Academy of Medical Sciences, Zhengzhou University, Zhengzhou, China; Academy of Medical Sciences of Zhengzhou University Translational Medicine Platform, Zhengzhou 450000, Henan, ChinaDepartment of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, 450000 Zhengzhou, Henan, China; Henan Key Laboratory of Cerebrovascular Diseases, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou 450000, Henan, ChinaDepartment of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, 450000 Zhengzhou, Henan, China; Henan Key Laboratory of Cerebrovascular Diseases, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou 450000, Henan, ChinaDepartment of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, 450000 Zhengzhou, Henan, China; Henan Key Laboratory of Cerebrovascular Diseases, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou 450000, Henan, ChinaDepartment of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, 450000 Zhengzhou, Henan, China; Henan Key Laboratory of Cerebrovascular Diseases, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou 450000, Henan, ChinaDepartment of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, 450000 Zhengzhou, Henan, China; Henan Key Laboratory of Cerebrovascular Diseases, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou 450000, Henan, China; Academy of Medical Sciences, Zhengzhou University, Zhengzhou, China; Academy of Medical Sciences of Zhengzhou University Translational Medicine Platform, Zhengzhou 450000, Henan, ChinaDepartment of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, 450000 Zhengzhou, Henan, China; Henan Key Laboratory of Cerebrovascular Diseases, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou 450000, Henan, China; Academy of Medical Sciences, Zhengzhou University, Zhengzhou, ChinaDepartment of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, 450000 Zhengzhou, Henan, China; Henan Key Laboratory of Cerebrovascular Diseases, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou 450000, Henan, China; Academy of Medical Sciences, Zhengzhou University, Zhengzhou, China; Academy of Medical Sciences of Zhengzhou University Translational Medicine Platform, Zhengzhou 450000, Henan, ChinaDepartment of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, 450000 Zhengzhou, Henan, China; Henan Key Laboratory of Cerebrovascular Diseases, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou 450000, Henan, China; Corresponding authors at: Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, 450000 Zhengzhou, Henan, China.Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, 450000 Zhengzhou, Henan, China; Henan Key Laboratory of Cerebrovascular Diseases, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou 450000, Henan, China; Corresponding authors at: Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, 450000 Zhengzhou, Henan, China.L1 cell adhesion molecule (L1CAM) is essential in various processes of neurodevelopment, including neuron migration, axon guidance, and synaptogenesis. Hundreds of L1CAM mutations have been implicated in neurodevelopmental defects, whereas the precise pathogenesis remains to be clarified. Here we obtained skin fibroblasts from a 6-year-old patient who carried a novel L1CAM missense mutation (p.Ile219Val/c.655A > G), and transformed these fibroblasts into induced pluripotent stem cells (iPSCs) by unintegrated reprogramming techniques. The iPSC line exhibited typical clonal morphology, expressed canonical pluripotent markers, and maintained the missense mutation with normal karyotype.http://www.sciencedirect.com/science/article/pii/S1873506122000125 |
| spellingShingle | Shaohua Li Yunchao Wang Huifang Sun Zhuoya Wang Qi Zhang Yanlin Wang Jing Yang Changhe Shi Yanpeng Yuan Hao Wang Anran Wang Zhengwei Hu Zhuo Li Yuming Xu Establishment of induced pluripotent stem cell line (ZZUi033-A) of a male with a novel L1CAM missense mutation Stem Cell Research |
| title | Establishment of induced pluripotent stem cell line (ZZUi033-A) of a male with a novel L1CAM missense mutation |
| title_full | Establishment of induced pluripotent stem cell line (ZZUi033-A) of a male with a novel L1CAM missense mutation |
| title_fullStr | Establishment of induced pluripotent stem cell line (ZZUi033-A) of a male with a novel L1CAM missense mutation |
| title_full_unstemmed | Establishment of induced pluripotent stem cell line (ZZUi033-A) of a male with a novel L1CAM missense mutation |
| title_short | Establishment of induced pluripotent stem cell line (ZZUi033-A) of a male with a novel L1CAM missense mutation |
| title_sort | establishment of induced pluripotent stem cell line zzui033 a of a male with a novel l1cam missense mutation |
| url | http://www.sciencedirect.com/science/article/pii/S1873506122000125 |
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