ERS24108609
SRA accession
induced pluripotent stem cell
http://www.ebi.ac.uk/efo/EFO_0004905
cell type
Gabriele-de Vries syndrome
http://purl.obolibrary.org/obo/MONDO_0044738
disease state
SAMEA6049763
donor id
cell line
http://www.ebi.ac.uk/efo/EFO_0000322
material
Homo sapiens
http://purl.obolibrary.org/obo/NCBITaxon_9606
organism
Facial dysmorphisms: Full nasal tip with thick columella, Full lower tip; Neurologic features: Behavioral problems (ADHD), sleeping problems, progressive torsion dystonia; Development: Mild intellectual disability; Other: Hemihypotrophy of distal part of left leg, dysphagia, Hypermetropia, Oesophageal atresia with TE fistula
phenotype
female
http://purl.obolibrary.org/obo/PATO_0000383
sex
GAD01
synonym
Induced Pluripotent Stem Cell Line UMILi010-A
title