SAMN14329443
External Id
School of Medicine, Nanjing University
INSDC center name
2020-03-10T00:00:00Z
INSDC first public
2021-02-28T09:03:18.828Z
INSDC last update
live
INSDC status
Human
NCBI submission model
Human.1.0
NCBI submission package
28
age
Hong Sang
biomaterial provider
Rui Yang
collected by
2017-04-30
collection date
Eight genes responsible for Xeroderma pigmentosum group were sequenced using next-generation sequencing , and the result was confirmed by Sanger sequencing. A novel homozygous c.111_112del deletion in exon 1 of the DDB2 gene, which resulted in a frameshift mutation of amino acid p.A39Efs*6 was detected.
description
China:Jangsu
geo loc name
Xeroderma pigmentosum
host disease
DDB2 mutation in Xeroderma pigmentosum group E
isolate
blood
http://purl.obolibrary.org/obo/UBERON_0000178
isolation source
32.02 N 118.46 E
lat lon
Homo sapiens
http://purl.obolibrary.org/obo/NCBITaxon_9606
organism
female
http://purl.obolibrary.org/obo/PATO_0000383
sex
blood
http://purl.obolibrary.org/obo/UBERON_0000178
tissue
Pathogen: clinical sample of DDB2 mutation
title