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Analysis of induced pluripotent stem cell clones derived from a patient with mosaic neurofibromatosis type 2

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Title: Analysis of induced pluripotent stem cell clones derived from a patient with mosaic neurofibromatosis type 2
Authors: Ishi, Yukitomo Browse this author →KAKEN DB
Era, Takumi Browse this author
Yuzawa, Sayaka Browse this author
Okamoto, Michinari Browse this author
Sawaya, Ryosuke Browse this author
Motegi, Hiroaki Browse this author
Yamaguchi, Shigeru Browse this author
Terasaka, Shunsuke Browse this author
Houkin, Kiyohiro Browse this author →KAKEN DB
Fujimura, Miki Browse this author
Keywords: induced pluripotent stem cells
neurofibromatosis type 2
Issue Date: Jun-2022
Publisher: John Wiley & Sons
Journal Title: American journal of medical genetics part A
Volume: 188
Issue: 6
Start Page: 1863
End Page: 1867
Publisher DOI: 10.1002/ajmg.a.62700
Abstract: The diagnosis of mosaicism is challenging in patients with neurofibromatosis type 2 (NF2) subset due to low variant allele frequency. In this study, we generated induced pluripotent stem cells (iPSCs) were generated from a patient clinically diagnosed with NF2 based on multiple schwannomas, including bilateral vestibular schwannomas and meningiomas. Genetic analysis of the patient's mononuclear cells (MNCs) from peripheral blood failed to detect NF2 alteration but successfully found p.Q65X (c.193C>T) mutation in all separate tumors with three intracranial meningiomas and one intraorbital schwannoma, and confirming mosaicism diagnosis in NF2 alteration using deep sequencing. Five different clones with patient-derived iPSCs were established from MNCs in peripheral blood, which showed sufficient expression of pluripotent markers. Genetic analysis showed that one of five generated iPSC lines from MNCs had the same p.Q65X mutation as that found in NF2. There was no significant difference in the expression of genes related to NF2 between iPSC clones with the wild-type and mutant NF2. In this case, clonal expansion of mononuclear bone marrow-derived stem cells recapitulated mosaicism's genetic alteration in NF2. Patient-derived iPSCs from mosaic NF2 would contribute to further functional research of NF2 alteration.
Rights: This is the peer reviewed version of the following article: Ishi, Y., Era, T., Yuzawa, S., Okamoto, M., Sawaya, R., Motegi, H., Yamaguchi, S., Terasaka, S., Houkin, K., & Fujimura, M. (2022). Analysis of induced pluripotent stem cell clones derived from a patient with mosaic neurofibromatosis type 2. American Journal of Medical Genetics Part A, 188A: 1863– 1867. which has been published in final form at 10.1002/ajmg.a.62700. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Use of Self-Archived Versions. This article may not be enhanced, enriched or otherwise transformed into a derivative work, without express permission from Wiley or by statutory rights under applicable legislation. Copyright notices must not be removed, obscured or modified. The article must be linked to Wiley’s version of record on Wiley Online Library and any embedding, framing or otherwise making available the article or pages thereof by third parties from platforms, services and websites other than Wiley Online Library must be prohibited.
Type: article (author version)
Appears in Collections:医学院・医学研究院 (Graduate School of Medicine / Faculty of Medicine) > 雑誌発表論文等 (Peer-reviewed Journal Articles, etc)

Submitter: 伊師 雪友

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