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使用 135K StemArray 对人类干细胞中的染色体异常进行高分辨率基因组分析。

High-Resolution Genomic Profiling of Chromosomal Abnormalities in Human Stem Cells Using the 135 K StemArray.

机构信息

Ambry Genetics, Departments of Genomic Services and R&D, 15 Argonaut, Aliso Viejo, CA 92656, USA.

出版信息

Stem Cells Int. 2012;2012:431534. doi: 10.1155/2012/431534. Epub 2012 Apr 5.

DOI:10.1155/2012/431534
PMID:22567024
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3337514/
Abstract

Culturing stem cells for an extended period of time can lead to acquired chromosomal aberrations. Determining the copy number variant (CNV) profile of stem cell lines is critical since CNVs can have dramatic effects on gene expression and tumorigenic potential. Here, we describe an improved version of our StemArray, a stem-cell-focused comparative genomic hybridization (aCGH) microarray, which contains 135,000 probes and covers over 270 stem cell and cancer related genes at the exon level. We have dramatically increased the median probe spacing throughout the genome in order to obtain a higher resolution genetic profile of the cell lines. To illustrate the importance of using the StemArray, we describe a karyotypically normal iPSC line in which we detected acquired chromosomal variations that could affect the cellular phenotype of the cells. Identifying adaptive chromosomal aberrations in stem cell lines is essential if they are to be used in regenerative medicine.

摘要

长时间培养干细胞会导致获得性染色体异常。确定干细胞系的拷贝数变异 (CNV) 谱至关重要,因为 CNVs 会对基因表达和致瘤潜能产生巨大影响。在这里,我们描述了我们的 StemArray 的一个改进版本,这是一种专注于干细胞的比较基因组杂交 (aCGH) 微阵列,其中包含 135000 个探针,涵盖了超过 270 个与干细胞和癌症相关的基因的外显子水平。为了获得细胞系更高分辨率的遗传图谱,我们大幅增加了整个基因组中的中位数探针间距。为了说明使用 StemArray 的重要性,我们描述了一条核型正常的 iPSC 系,我们在其中检测到了可能影响细胞表型的获得性染色体变异。如果要将干细胞系用于再生医学,那么识别适应性染色体异常是至关重要的。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf6f/3337514/2fed2efb9779/SCI2012-431534.004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf6f/3337514/b0d0ae3ccee5/SCI2012-431534.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf6f/3337514/f9a2817f7672/SCI2012-431534.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf6f/3337514/599bf025b020/SCI2012-431534.003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf6f/3337514/2fed2efb9779/SCI2012-431534.004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf6f/3337514/b0d0ae3ccee5/SCI2012-431534.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf6f/3337514/f9a2817f7672/SCI2012-431534.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf6f/3337514/599bf025b020/SCI2012-431534.003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf6f/3337514/2fed2efb9779/SCI2012-431534.004.jpg

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本文引用的文献

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