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 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. Copyright © 2022 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Li S, Wang Y, Sun H, Wang Z, Zhang Q, Wang Y, Yang J, Shi C, Yuan Y, Wang H, Wang A, Hu Z, Li Z, Xu Y
Journal Stem cell research
Publication Date 2022 Jan 10;59:102663
PubMed 35042084
DOI 10.1016/j.scr.2022.102663

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