Kabuki Syndrome type 1 fibroblast sample GDB380
Human fibroblast sample from a Kabuki Syndrome type 1 patient carrying a pathogenic KMT2D variant. Sample ID: GDB380.
commonName
human
scientific name
Homo sapiens
last_updated_by
EVA
species
Homo sapiens
collection date
2013-12-20
taxId
9606
sex
male
tissue_type
fibroblast
geographic location (country and/or sea)
Italy