Back

Generation of non-integrated iPSCs from achondroplasia patient skin and urine and gene correction in them using CRISPR-Cas9

Qin, Y.

2019-10-25 genetics
10.1101/801415 bioRxiv
Show abstract

BackgroundAchondroplasia (ACH) is the most common genetic form of dwarfism and belongs to dominant monogenic disorder caused by a gain-of-function point mutation in the transmembrane region of FGFR3. There are no effective treatments for ACH. Stem cells and gene-editing technology provide us with effective methods and ideas for ACH research and treatment. MethodsWe generated non-integrated iPSCs from an ACH girls skin and an ACH boys urine by Sendai virus. The mutation of ACH iPSCs was precisely corrected by CRISPR-Cas9. ResultsChondrogenic differentiation ability of ACH iPSCs was confined compared with that of healthy iPSCs. Chondrogenic differentiation ability of corrected ACH iPSCs could be restored. These corrected iPSCs displayed pluripotency, maintained normal karyotype, and demonstrated none of off-target indels. ConclusionsThis study may provide an important theoretical and experimental basis for the ACH research and treatment.

Matching journals

The top 12 journals account for 50% of the predicted probability mass.

1
Frontiers in Genetics
○ 230 papers in training set
Top 0.1%
9.9%
Similar papers in this journal
2
eLife
● 5828 papers in training set
Top 10%
9.8%
Similar papers in this journal
3
Stem Cell Research
○ 16 papers in training set
Top 0.1%
5.2%
Similar papers in this journal
4
Molecular Therapy - Nucleic Acids
○ 25 papers in training set
Top 0.1%
4.4%
Similar papers in this journal
5
PLOS ONE
● 5266 papers in training set
Top 32%
4.1%
Similar papers in this journal
6
Journal of Molecular Cell Biology
◐ 22 papers in training set
Top 0.1%
3.3%
7
Stem Cell Reports
○ 130 papers in training set
Top 0.7%
3.3%
8
International Journal of Molecular Sciences
○ 494 papers in training set
Top 5%
2.5%
9
Experimental & Molecular Medicine
○ 14 papers in training set
Top 0.1%
2.4%
10
Stem Cells
◐ 31 papers in training set
Top 0.3%
2.4%
11
Genes
○ 144 papers in training set
Top 1%
2.4%
12
Journal of Genetics and Genomics
○ 38 papers in training set
Top 0.2%
2.4%
50% of probability mass above
13
Biochemical and Biophysical Research Communications
○ 84 papers in training set
Top 0.7%
2.1%
14
Scientific Reports
○ 3612 papers in training set
Top 45%
2.1%
15
Cytotherapy
○ 15 papers in training set
Top 0.1%
2.1%
16
Cells
○ 249 papers in training set
Top 2%
2.1%
17
Stem Cell Research & Therapy
○ 30 papers in training set
Top 0.3%
1.9%
18
Aging
○ 75 papers in training set
Top 0.8%
1.8%
19
Genomics, Proteomics & Bioinformatics
188 papers in training set
Top 1%
1.7%
20
Cell Discovery
○ 57 papers in training set
Top 0.6%
1.4%
21
Experimental Cell Research
○ 28 papers in training set
Top 0.3%
1.4%
22
iScience
○ 1154 papers in training set
Top 25%
1.1%
23
Clinical and Translational Medicine
○ 31 papers in training set
Top 0.5%
1.1%
24
DNA Research
◐ 26 papers in training set
Top 0.2%
1.1%
25
PLOS Genetics
● 862 papers in training set
Top 10%
1.1%
26
Human Molecular Genetics
◐ 141 papers in training set
Top 2%
1.1%
27
Frontiers in Cell and Developmental Biology
○ 233 papers in training set
Top 4%
1.0%
28
Heliyon
○ 152 papers in training set
Top 7%
0.9%
29
Biomedicines
○ 67 papers in training set
Top 3%
0.9%
30
Science China Life Sciences
○ 29 papers in training set
Top 0.5%
0.9%

"Similar papers" are the closest papers from that journal in the model's embedding space. They show what the match is built on, but the ranking comes mostly from a classifier over the whole training set, not from these examples alone.