Stem Cell Research (Mar 2022)
Establishment of induced pluripotent stem cell line (ZZUi033-A) of a male with a novel L1CAM missense mutation
- 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
Affiliations
- Shaohua Li
- 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; Academy of Medical Sciences, Zhengzhou University, Zhengzhou, China; Academy of Medical Sciences of Zhengzhou University Translational Medicine Platform, Zhengzhou 450000, Henan, China
- Yunchao Wang
- 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
- Huifang Sun
- 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; Academy of Medical Sciences, Zhengzhou University, Zhengzhou, China
- Zhuoya Wang
- 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
- Qi Zhang
- 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; Academy of Medical Sciences, Zhengzhou University, Zhengzhou, China; Academy of Medical Sciences of Zhengzhou University Translational Medicine Platform, Zhengzhou 450000, Henan, China
- Yanlin Wang
- 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
- Jing Yang
- 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
- Changhe Shi
- 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
- Yanpeng Yuan
- 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
- Hao Wang
- 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; Academy of Medical Sciences, Zhengzhou University, Zhengzhou, China; Academy of Medical Sciences of Zhengzhou University Translational Medicine Platform, Zhengzhou 450000, Henan, China
- Anran Wang
- 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; Academy of Medical Sciences, Zhengzhou University, Zhengzhou, China
- Zhengwei Hu
- 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; Academy of Medical Sciences, Zhengzhou University, Zhengzhou, China; Academy of Medical Sciences of Zhengzhou University Translational Medicine Platform, Zhengzhou 450000, Henan, China
- Zhuo Li
- 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.
- Yuming Xu
- 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.
- Journal volume & issue
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Vol. 59
p. 102663
Abstract
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.
