Establishment of a human induced pluripotent stem cell line, KMUGMCi010-A, from a patient with X-linked Ohdo syndrome bearing missense mutation in the MED12 gene.

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  • Additional Information
    • Source:
      Publisher: Elsevier Country of Publication: England NLM ID: 101316957 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1876-7753 (Electronic) Linking ISSN: 18735061 NLM ISO Abbreviation: Stem Cell Res Subsets: MEDLINE
    • Publication Information:
      Original Publication: Kidlington, Oxford : Elsevier
    • Subject Terms:
      Mutation, Missense* ; Induced Pluripotent Stem Cells*/metabolism ; Mediator Complex*/genetics ; Mediator Complex*/metabolism; Humans ; Cell Line ; Male ; Cellular Reprogramming ; Genetic Diseases, X-Linked/genetics ; Genetic Diseases, X-Linked/pathology
    • Abstract:
      X-linkded Ohdo syndrome is characterized mainly by intellectual disability, delays in reaching development, feeding difficulties, thyroid dysfunction, and dysmorphic appearance with blepharophimosis, immobile mask-like face and bulbous nose. The X-linked Ohdo syndrome is caused by loss of function mutation in MED12 gene on X chromosome. The peripheral blood mononuclear cells from a patient carrying missense mutation of the MED12 gene were reprogrammed using the CytoTune-iPS2.0 Sendai Reprogramming Kit. The missense mutation in MED12 gene causes the abnormal protein variant. The established human induced pluripotent cell line will enable proper in vitro disease modelling of X-linked Ohdo syndrome.
      Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.
      (Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.)
    • Accession Number:
      0 (Mediator Complex)
      0 (MED12 protein, human)
    • Publication Date:
      Date Created: 20240316 Date Completed: 20240601 Latest Revision: 20240610
    • Publication Date:
      20240610
    • Accession Number:
      10.1016/j.scr.2024.103388
    • Accession Number:
      38492468