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E-MTAB-11971 genotyping by high throughput sequencing Homo sapiens, Homo sapiens

DNA sequencing data of PPP1R12C and KCNH2 genomic regions in cell lines modified at these loci using STRAIGHT-IN.

·发布 2022年9月22日
17
样本数
17
实验数
1
相关文献
实验描述

Inserting large DNA payloads (>5 kb) into specific genomic sites of mammalian cells remains challenging. We have merged the strengths of different classes of site-specific recombinases and combine these with CRISPR/Cas9-mediated homologous recombination to develop a strategy for targeted DNA integration of huge constructs (e.g. >170 kb) as well as stringent site-specific replacement of genomic fragments >50 kb in size in human induced pluripotent stem cells. In order to validate the genome integrity of the payloads integrated by STRAIGHT-IN (Serine and Tyrosine Recombinase Assisted Integration of Genes for High-Throughput INvestigation), we performed next generation sequencing (i.e. whole genome and targeted capture sequencing) on the resulting genetically modified cell lines. We have deposited here the raw data.

参考文献
STRAIGHT-IN: A platform for high-throughput targeting of large DNA payloads in human pluripotent stem cells
Blanch-Asensio, A., Grandela, C., Brandão, K.O., de Korte, T., Mei, H., Ariyurek, Y., Yiangou, L., Mol, M.P.H., van Meer, B.J., Kloet, S.L., Mummery, C.L., Davis, R.P.
样本属性
Organism
Homo sapiens
Developmental stage
adult
Organism part
skin
Progenitor cell type
fibroblast
Cell type
induced pluripotent stem cell
Cell line
LUMCi028-A
Disease
normal, Familial short QT syndrome, Familial long QT syndrome
Genotype
wild type genotype, genetically modified genotype
Genetic modification
NM_000238.4:c.1671_1672TG>CC, NM_000238.4:c.1681G>A, NM_000238.4:c.1750G>A, NM_000238.4:c.1898A>G, NM_000238.4:c.1853C>T, NM_000238.4:c.1762A>G, NC_000007.14:g.150936293-150986864del, NM_000238.4:c.1733 A>C, NC_000019.10:g.55115766_55115767ins[N[?];NC_000007.14:g.150848452_151010445;N[?]], NM_000238.4:c.1841C>T, none, NM_000238.4:c.1881_1882CG>TA, NM_000238.4:c.1764C>G, NM_000238.4:c.1853C>G
实验信息
登记号
E-MTAB-11971
实验类型
genotyping by high throughput sequencing
物种
Homo sapiens, Homo sapiens
发布日期
2022年9月22日
提交者
Richard Davis
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