Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
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Enzyme
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Query: UMLS:C0026936 (
Mycoplasma
)
14,761
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
We report the generation, CRISPR/Cas9-edition and characterization of induced pluripotent stem cell (iPSC) lines from a patient with coenzyme Q
10
deficiency harboring the heterozygous mutation c.483G>C in the
COQ4
gene. iPSCs were generated using non-integrative Sendai Viruses containing the reprogramming factors OCT4, SOX2, KLF4 and C-MYC. The iPSC lines carried the c.483G>C
COQ4
mutation, silenced the OKSM expression and were
mycoplasma
-free. They were bona fide pluripotent cells as characterized by morphology, immunophenotype/gene expression for pluripotent-associated markers/genes, NANOG and OCT4 promoter demethylation, karyotype and teratoma formation. The
COQ4
mutation was CRISPR/Cas9 edited resulting in isogenic, diploid and off-target free
COQ4
-corrected iPSCs.
...
PMID:Generation, genome edition and characterization of iPSC lines from a patient with coenzyme Q
10
deficiency harboring a heterozygous mutation in COQ4 gene. 2846 93
