从一名携带 BUB1 基因复合杂合子突变的小头畸形年轻女性身上获得的两个同源诱导多能干细胞系的生成和特征描述

IF 0.8 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research Pub Date : 2024-10-23 DOI:10.1016/j.scr.2024.103594

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引用次数: 0

摘要

苯并咪唑抑制芽生（BUB1）基因突变最近与神经发育障碍有关（Carvalhal等人，2022年）。在这里，我们描述了两个诱导多能干细胞（iPSC）克隆的产生和特征，这两个克隆来自一名患有小头畸形的年轻女性。该患者的 BUBfibroblast 基因（OMIM # 602452）有两个变异，一个（c. [2197dupG]; p. [D732fs*11]）为父系遗传，另一个（c. [2625+1G>A]; p. [V822_L875del]）为母系遗传。生成的克隆表现出正常核型（UALGi003-A）和 8 三体（UALGi003-B），表达多能性标记，并在体外分化成三系细胞。这些细胞系可用于研究神经发育和染色体分离过程。

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Generation and characterization of two isogenic induced pluripotent stem cell lines from a young female with microcephaly carrying a compound heterozygous mutation in BUB1 gene

Mutations in the Budding uninhibited by benzimidazoles (BUB1) gene were recently associated with neurodevelopmental disorders (Carvalhal et al., 2022). Here, we describe the generation and characterization of two induced pluripotent stem cells (iPSC) clones from a young female with microcephaly. The patient carried two variants in the BUBfibroblast gene (OMIM # 602452), one (c.[2197dupG]; p.[D732fs*11]) paternally inherited and one (c.[2625+1G>A]; p.[V822_L875del] maternally inherited. The generated clones exhibit a normal karyotype (UALGi003-A) and trisomy 8 (UALGi003-B), express pluripotency markers, and differentiate into trilineage cells in vitro. These cell lines can be used to study neurodevelopment and the processes of chromosome segregation.

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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.