ERS24110248
SRA accession
induced pluripotent stem cell
http://www.ebi.ac.uk/efo/EFO_0004905
cell type
Wilson disease
disease state
SAMEA9352687
donor id
cell line
http://www.ebi.ac.uk/efo/EFO_0000322
material
Homo sapiens
http://purl.obolibrary.org/obo/NCBITaxon_9606
organism
The proband from the first pregnancy, proceeding with anemia, carriage of cytomegalovirus, candidal colpitis, chronic placental insufficiency, threat of pregnancy termination. Urgent labor at 41-42 weeks, the amniotic fluid is meconium. The condition is grave, according to Apgar 2 points, the skin is abundantly covered with meconium, 2-fold entanglement with the umbilical cord. The initial disease manifestations, with an allergic skin rash at 5 years. There was an increase in ALT 384 U/L, AST 169 U/L, Gamma-HT 110 U/L. There was a decrease in copper 5.82 μM / L (13.0-24.0) and ceruloplasmin 0.09 g / L (0.27-0.56) in the blood serum.
phenotype
male
http://purl.obolibrary.org/obo/PATO_0000384
sex
HF2
synonym
Induced Pluripotent Stem Cell Line ICGi030-A
title