ERS24108587
SRA accession
induced pluripotent stem cell
http://www.ebi.ac.uk/efo/EFO_0004905
cell type
Kabuki Syndrome
http://purl.obolibrary.org/obo/NCIT_C124837
disease state
SAMEA6049741
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: Long palpebral fissures, Everted lower eyelids, Large dysplastic ears, Arched eyebrows, Flat nasal tip, High/cleft palate, Blue sclearae, Micrognathia, Broad nasal root, Thin upper and full lower lip; Limb/skeletal features: Persistent fetal pads; Neurologic features: MR
phenotype
male
http://purl.obolibrary.org/obo/PATO_0000384
sex
KAB01
synonym
Induced Pluripotent Stem Cell Line UMILi002-A
title