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Article

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

American journal of medical genetics. Part A - 1 Jun 2022

Ishi Yukitomo, Era Takumi, Yuzawa Sayaka, Okamoto Michinari, Sawaya Ryosuke, Motegi Hiroaki, Yamaguchi Shigeru, Terasaka Shunsuke, Houkin Kiyohiro, Fujimura Miki

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35178855
DOI: 10.1002/ajmg.a.62700

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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