健康受试者中的拷贝数变异。案例研究：从一名15q13.3染色体上CHRNA7基因存在重复变异的个体产生诱导多能干细胞系CSSi005 - A(3544) 。
Copy number variations in healthy subjects. Case study: iPSC line CSSi005-A (3544) production from an individual with variation in 15q13.3 chromosome duplicating gene CHRNA7.
作者信息
Turco Elisa Maria, Vinci Ersilia, Altieri Filomena, Ferrari Daniela, Torres Barbara, Goldoni Marina, Lamorte Giuseppe, Tata Ada Maria, Mazzoccoli Gianluigi, Postorivo Diana, Della Monica Matteo, Bernardini Laura, Vescovi Angelo Luigi, Rosati Jessica
机构信息
IRCCS Casa Sollievo della Sofferenza, Cellular Reprogramming Unit, Viale dei Cappuccini, 71013, San Giovanni Rotondo, Foggia, Italy.
Bicocca University of Milan, Dept. of Biotechnology and Biosciences, Piazza della Scienza 2, 20126 Milano, Italy.
出版信息
Stem Cell Res. 2018 Oct;32:73-77. doi: 10.1016/j.scr.2018.09.002. Epub 2018 Sep 6.
CHRNA7, encoding the neuronal alpha7 nicotinic acetylcholine receptor (a7nAChR), is highly expressed in the brain, particularly in the hippocampus. It is situated in the 15q13.3 chromosome region, frequently associated with a Copy Number Variation (CNV), which causes its duplication or deletion. The clinical significance of CHRNA7 duplications is unknown so far, but there are several research data suggesting that they may be pathogenic, with reduced penetrance. We have produced an iPS cell line from a single healthy donor's fibroblasts carrying a 15q13.3 CNV, including CHRNA7 in order to study the exact role of this CNV during the neurodevelopment.
编码神经元α7烟碱型乙酰胆碱受体（α7nAChR）的CHRNA7在大脑中高度表达，尤其是在海马体中。它位于15q13.3染色体区域，该区域经常与拷贝数变异（CNV）相关，CNV会导致其重复或缺失。到目前为止，CHRNA7重复的临床意义尚不清楚，但有一些研究数据表明它们可能具有致病性，且外显率降低。我们从一名携带15q13.3 CNV（包括CHRNA7）的健康供体的成纤维细胞中产生了一个诱导多能干细胞系，以研究该CNV在神经发育过程中的具体作用。
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