ERS24108583
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
SAMEA6049737
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, Abnormal dentition, Strabismus, Micrognathia, Ptosis, Oligodontie, Thin upper and full lower lip; Limb/skeletal features: Persistent fetal pads, Brachy/clinodactyly; Neurologic features: MR, Hypotonia
phenotype
female
http://purl.obolibrary.org/obo/PATO_0000383
sex
KAB07
synonym
Induced Pluripotent Stem Cell Line UMILi001-A
title