ERS24089909
SRA accession
induced pluripotent stem cell
http://www.ebi.ac.uk/efo/EFO_0004905
cell type
Mitochondrial pyruvate carrier deficiency
http://www.orpha.net/ORDO/Orphanet_447784
disease state
SAMEA114246937
donor id
cell line
http://www.ebi.ac.uk/efo/EFO_0000322
material
Homo sapiens
http://purl.obolibrary.org/obo/NCBITaxon_9606
organism
microcephaly
phenotype
growth failure
phenotype
increased serum lactate with a normal lactate/pyruvate ratio
phenotype
developmental delay
phenotype
male
http://purl.obolibrary.org/obo/PATO_0000384
sex
Induced Pluripotent Stem Cell Line BCHNCi003-A
title