{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,11]],"date-time":"2026-02-11T13:00:35Z","timestamp":1770814835037,"version":"3.50.1"},"reference-count":20,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2022,2,18]],"date-time":"2022-02-18T00:00:00Z","timestamp":1645142400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>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 <jats:italic>NF2<\/jats:italic> alteration but successfully found p.Q65X (c.193C&gt;T) mutation in all separate tumors with three intracranial meningiomas and one intraorbital schwannoma, and confirming mosaicism diagnosis in <jats:italic>NF2<\/jats:italic> alteration using deep sequencing. Five different clones with patient\u2010derived 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 <jats:italic>NF2<\/jats:italic>. There was no significant difference in the expression of genes related to <jats:italic>NF2<\/jats:italic> between iPSC clones with the wild\u2010type and mutant <jats:italic>NF2<\/jats:italic>. In this case, clonal expansion of mononuclear bone marrow\u2010derived stem cells recapitulated mosaicism's genetic alteration in NF2. Patient\u2010derived iPSCs from mosaic NF2 would contribute to further functional research of <jats:italic>NF2<\/jats:italic> alteration.<\/jats:p>","DOI":"10.1002\/ajmg.a.62700","type":"journal-article","created":{"date-parts":[[2022,2,18]],"date-time":"2022-02-18T08:14:34Z","timestamp":1645172074000},"page":"1863-1867","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Analysis of induced pluripotent stem cell clones derived from a patient with mosaic neurofibromatosis type 2"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4834-2619","authenticated-orcid":false,"given":"Yukitomo","family":"Ishi","sequence":"first","affiliation":[{"name":"Department of Neurosurgery Faculty of Medicine and Graduate School of Medicine, Hokkaido University  Sapporo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takumi","family":"Era","sequence":"additional","affiliation":[{"name":"Department of Cell Modulation Institute of Molecular Embryology and Genetics, Kumamoto University  Kumamoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sayaka","family":"Yuzawa","sequence":"additional","affiliation":[{"name":"Department of Diagnostic Pathology Asahikawa Medical University Hospital  Asahikawa Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michinari","family":"Okamoto","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery Faculty of Medicine and Graduate School of Medicine, Hokkaido University  Sapporo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ryosuke","family":"Sawaya","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery Faculty of Medicine and Graduate School of Medicine, Hokkaido University  Sapporo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroaki","family":"Motegi","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery Faculty of Medicine and Graduate School of Medicine, Hokkaido University  Sapporo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shigeru","family":"Yamaguchi","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery Faculty of Medicine and Graduate School of Medicine, Hokkaido University  Sapporo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shunsuke","family":"Terasaka","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery Faculty of Medicine and Graduate School of Medicine, Hokkaido University  Sapporo Japan"},{"name":"Department of Neurosurgery Kashiwaba Neurosurgical Hospital  Sapporo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kiyohiro","family":"Houkin","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery Faculty of Medicine and Graduate School of Medicine, Hokkaido University  Sapporo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miki","family":"Fujimura","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery Faculty of Medicine and Graduate School of Medicine, Hokkaido University  Sapporo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,2,18]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(09)60259-2"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-019-0598-7"},{"issue":"304","key":"e_1_2_9_4_1","first-page":"603","article-title":"A clinical study of type 2 neurofibromatosis","volume":"84","author":"Evans D. 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