Annotation Detail

Information
Associated Genes
FANCA
Associated Variants
FANCA MUTATION
FANCA MUTATION
Associated Disease
Fanconi anemia
Source Database
DisGeNET
Description
Here, we derive integration free-induced pluripotent stem cells (iPSCs) from an FA patient without genetic complementation and report in situ gene correction in FA-iPSCs as well as the generation of isogenic FANCA-deficient human embryonic stem cell (ESC) lines.
Pubmed
24999918
Section of the abstract supporting the evidence
ALL_TEXT_2/3
Number of the section of the abstract supporting the evidence
2
Number of the sentence supporting the evidence
3
Original source reporting the Gene Disease association
BeFree,CLINVAR,CTD_human,GAD,LHGDN,ORPHANET
DisGENET score for the Gene Disease association
0.392255432472428
Drugs