从诊断为Nasu-Hakola病(NHD)/多囊性脂膜性骨发育不良伴硬化性白质脑病（PLOSL）的女性患者的PBMCs中产生人诱导多能干细胞（BIHi292-A），携带tre2基因的新杂合突变。

IF 0.8 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research Pub Date : 2025-01-15 DOI:10.1016/j.scr.2025.103660

Ria Göttert , Valeria Fernandez Vallone , Harald Stachelscheid , Jakob Johannes Metzger , Cassandra Carao Caedo , Maria Buthut , Harald Prüss , Matthias Endres , Simone Schilling , Karen Gertz

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引用次数: 0

摘要

NHD/PLOSL是一种孤儿病，其特征是进行性老年痴呆，并伴有多囊性骨病变引起的复发性骨折。在这项研究中，我们从一名诊断为NHD/PLOSL的30岁女性中获得了人诱导多能干细胞（hiPSC）细胞系BIHi292-A，该细胞系携带两种复合杂合移码突变[c]。313del （p.Ala105fs）和c.199del (p.His67fs)]在TREM2（髓细胞上表达的触发受体2）基因中表达。BIHi292-A hiPSCs核型正常，表达未分化状态的典型标记，具有多能分化潜能。BIHi292-A细胞将为研究NHD/PLOSL的致病机制和trem2相关的研究问题提供有价值的工具。

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Generation of a human induced pluripotent stem cell line (BIHi292-A) from PBMCs of a female patient diagnosed with Nasu-Hakola disease (NHD)/polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) carrying a novel heterozygous mutation in the TREM2 gene

NHD/PLOSL is an orphan disease characterized by progressive presenile dementia associated with recurrent fractures due to polycystic bone lesions. In this study, we generated the human induced pluripotent stem cell (hiPSC) line BIHi292-A from a 30-year-old women diagnosed with NHD/PLOSL, carrying two compound heterozygous frameshift mutations [c.313del (p.Ala105fs) and c.199del (p.His67fs)] in the TREM2 (triggering receptor expressed on myeloid cells 2) gene. BIHi292-A hiPSCs are karyotypically normal, express typical markers for the undifferentiated state and have pluripotent differentiation potential. BIHi292-A cells will provide a valuable tool for investigating pathogenic mechanisms of NHD/PLOSL and TREM2-related research questions.

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来源期刊

Stem cell research 生物-生物工程与应用微生物

CiteScore

2.20

自引率

8.30%

发文量

338

审稿时长

55 days

期刊介绍： Stem Cell Research is dedicated to publishing high-quality manuscripts focusing on the biology and applications of stem cell research. Submissions to Stem Cell Research, may cover all aspects of stem cells, including embryonic stem cells, tissue-specific stem cells, cancer stem cells, developmental studies, stem cell genomes, and translational research. Stem Cell Research publishes 6 issues a year.