ERS24107689
SRA accession
induced pluripotent stem cell
http://www.ebi.ac.uk/efo/EFO_0004905
cell type
Leukodystrophy
http://purl.obolibrary.org/obo/NCIT_C61253
disease state
SAMEA14299768
donor id
cell line
http://www.ebi.ac.uk/efo/EFO_0000322
material
Homo sapiens
http://purl.obolibrary.org/obo/NCBITaxon_9606
organism
Leukodystrophy
phenotype
Delayed motor development
phenotype
Hypomyelination of the brain white matter
phenotype
Mental retardation
phenotype
female
http://purl.obolibrary.org/obo/PATO_0000383
sex
TMEM163 c.227T>C p.(Leu76Pro) iPSC
synonym
Induced Pluripotent Stem Cell Line PUFHi004-A
title