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

doi:10.1016/j.scr.2022.102663

Establishment of induced pluripotent stem cell line (ZZUi033-A) of a male with a novel L1CAM missense mutation

Stem Cell Res. 2022 Mar:59:102663. doi: 10.1016/j.scr.2022.102663. Epub 2022 Jan 10.

Authors

Shaohua Li¹, Yunchao Wang², Huifang Sun³, Zhuoya Wang², Qi Zhang¹, Yanlin Wang², Jing Yang², Changhe Shi², Yanpeng Yuan², Hao Wang¹, Anran Wang³, Zhengwei Hu¹, Zhuo Li⁴, Yuming Xu⁵

Affiliations

¹ 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.
² 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.
³ 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.
⁴ 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. Electronic address: zhuolimarch@126.com.
⁵ 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. Electronic address: xuyuming@zzu.edu.cn.

PMID: 35042084
DOI: 10.1016/j.scr.2022.102663

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.