2022-11-04
ENA-FIRST-PUBLIC
2022-11-04
ENA-LAST-UPDATE
SAMN26196584
External Id
GSM5911982
External Id
2022-11-04T01:34:48Z
INSDC first public
2022-11-04T01:34:48Z
INSDC last update
public
INSDC status
SRS12080417
SRA accession
GSM5911982
Submitter Id
NCBI
broker name
Peripheral blood mononuclear cells
cell type
female patient
clone/replicate
human
common name
PBMCs with MAD1L1 gene mutations in homocigosis ( c.196C>T; p.Q66*) (c.1882G>T; p.E628*)
genotype/variation
Homo sapiens
http://purl.obolibrary.org/obo/NCBITaxon_9606
organism
Blood sample
source_name
Proband
title