Homo sapiens
isolate
NM_000404.4(GLB1):c.808 T > G (p.Tyr270Asp), NM_022124.6 (CDH23) c.6992 T > C (p.Val2331Ala), NM_022124.6 (CDH23) c.805C > T (p.Arg269Trp)
age
11
biomaterial_provider
Research Centre for Medical Genetics, 115478, Russian Federation, Moscow, Moskvorechye str.,18
collection_date
2023
geo_loc_name
Russia
sex
male
tissue
3D_HLC (3D hepatic like cells)
cell_line
P10L1
dev_stage
Day 29
disease
OMIM #253010
BioSampleModel
Human