Patient AC439 replicate 2
source_name
Patient AC439
condition
Microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1)
individual
Patient AC439
cell line
lymphoblastoid cell line
cell type
MOPD1 patient-derived immortalized lymphoblasts
genotype/variation
RNU4ATAC g.108_126del; g.111G>A