the son
Human
BioSampleModel
2023-11-15T00:10:38Z
ENA-FIRST-PUBLIC
2023-11-15T00:10:38Z
ENA-LAST-UPDATE
SAMN37585944
External Id
pda|xieyingjun@orcid
INSDC center name
2023-11-15T00:10:38Z
INSDC first public
2023-11-15T00:10:38Z
INSDC last update
public
INSDC status
SRS19001624
SRA accession
the son
Submitter Id
6-year-old
age
not collected
biomaterial_provider
NCBI
broker name
not collected
collection_date
human
common name
China
geo_loc_name
hemizygous pathogenic variant in the CLCN5 gene of the X chromosome, and the pathogenic variant of the 1942nd base C was T, c.1942 C>T (exmo11, NM_000084)
isolate
Homo sapiens
organism
Homo sapiens
scientific_name
male
sex
peripheral blood
tissue