Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
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Enzyme
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Query: UMLS:C0013421 (
dystonia
)
8,418
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Peripheral blood mononuclear cells (PBMCs) were collected from a clinically diagnosed 20-year-old
dystonia
patient with a GCH1 mutation (DYT5). Episomal vectors were used to introduce reprogramming factors (
OCT3
/4, SOX2, KLF4, L-MYC, LIN28, and p53 carboxy-terminal dominant-negative fragment) to the PBMCs. The generated iPSCs expressed pluripotency markers, and were capable of differentiating into derivates of all three germ layers in vitro. The iPSC line also showed a normal karyotype and preserved the GCH1 mutation. This cellular model can provide opportunities to perform pathophysiological studies for aberrant dopamine metabolism-related disorders.
...
PMID:Establishment of DYT5 patient-specific induced pluripotent stem cells with a GCH1 mutation. 2903 93
