Generation of induced pluripotent stem cell GZHMCi005-A from amniotic fluid-derived cells with duplication of chromosome 8p.
Generation of induced pluripotent stem cell GZHMCi005-A from amniotic fluid-derived cells with duplication of chromosome 8p.
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从具有 8p 染色体重复的羊水来源细胞产生诱导多能干细胞 GZHMCi005-A。
DOI：
10.1016/j.scr.2021.102226
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发表时间：
2021
影响因子：
1.2
通讯作者：
Sun Xiaofang
中科院分区：
文献类型：
--
作者：
Cheng Yi;Cao Dingya;Liu Nengqing;Guang Hongmei;Liang Yi;Zhang Huimin;X. Jiajia;Song Bing;Sun Xiaofang
观察到染色体8 p（dup 8 p）重复的病例以面部畸形、胼胝体发育不全/发育不全、心脏缺陷和严重智力低下为特征。与其他染色体相比，dup 8 p病例的频率更高，这是因为位于染色体8p23.1上的两个含有嗅觉受体基因簇的片段重复区（SD）之间的非等位基因同源重组（NAHR），REPD（远端重复）和REPP（近端重复）。在这里，我们从患者的羊水细胞中产生了在8p23.3p22中具有18 Mb重复的人iPSC系，这将作为研究dup 8 p综合征的有用工具。
Cases in which the duplication of chromosome 8p (dup 8p) is observed are characterized by facial dysmorphism, agenesis/hypoplasia of the corpus callosum, heart defects and severe mental retardation. The frequency of dup 8p cases is higher compared to other chromosomes because of the Non-allelic homologous recombination (NAHR) between two segmental duplication regions (SDs) containing olfactory receptor gene clusters, REPD (repeat-distal) and REPP (repeat-proximal), located in chromosome 8p23.1. Here we generated a human iPSC line from a patient’s amniotic fluid cells with a 18 Mb duplication in 8p23.3p22, which will serve as useful tools for studying dup 8p syndrome.
影响因子：
64.5
作者：
Takahashi, Kazutoshi;Tanabe, Koji;Yamanaka, Shinya
通讯作者：
Yamanaka, Shinya
DOI：
10.2183/pjab.85.348
发表时间：
2009
期刊：
Proceedings of the Japan Academy. Series B, Physical and biological sciences
影响因子：
--
作者：
Fusaki N;Ban H;Nishiyama A;Saeki K;Hasegawa M
通讯作者：
Hasegawa M