Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0026838 (
spasticity
)
6,471
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) is a rare disease. Patients with NEDSDV are usually accompanied by microcephaly,
severe mental retardation
,
spasticity
, and global developmental delay. Recent studies showed that mutations in CTNNB1 are responsible for the phenotype. Here, we generated an induced pluripotent stem cell (iPSC) line (SBWCHi001-A) from an 18-month-old patient with NEDSDV, who harbored a de novo heterozygous mutation in CTNNB1. The transduced iPSCs expressed pluripotency markers, and could differentiate into three germ layers in vitro. This cell line will be a cell model to explore the pathogenesis of NEDSDV and discover potential therapies.
...
PMID:Generation of a human induced pluripotent stem cell line (SBWCHi001-A) from a patient with NEDSDV carrying a pathogenic mutation in CTNNB1 gene. 3326 26
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