ERS24108595
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
SAMEA6049749
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, Abnormal dentition, High/cleft palate, Strabismus, Ptosis, Broad nasal root, Thin upper and full lower lip; Limb/skeletal features: Persistent fetal pads, Branchy/clinodactyly, Lax joints, Hip dislocation; Neurologic features: MR, Microcephaly
phenotype
female
http://purl.obolibrary.org/obo/PATO_0000383
sex
KAB04
synonym
Induced Pluripotent Stem Cell Line UMILi004-A
title