U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

GM08207 female affected XPD sample

Identifiers
BioSample: SAMN00797956; Coriell: GM08207
Organism
Homo sapiens (human)
cellular organisms; Eukaryota; Opisthokonta; Metazoa; Eumetazoa; Bilateria; Deuterostomia; Chordata; Craniata; Vertebrata; Gnathostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Euarchontoglires; Primates; Haplorrhini; Simiiformes; Catarrhini; Hominoidea; Hominidae; Homininae; Homo
Attributes
cell lineGM08207
sexFemale
cell typeFibroblast
family id1212
family roleproband
raceCaucasian
karyotypeXX;Unstable karyotype
age19 YR
GeneERCC2
affected_byXPD
Mutation78 bp deletion (106-183)
MutationARG683TRP
collectionNIGMS Human Genetic Cell Repository
Tags
XPD
Xeroderma pigmentosum, complementation group d
Excision-repair: complementing defective in chinese hamster 2
ERCC2
Description

XP6BE;SV40 transformed;positive family history;neurological complications;passage 3 at CCR;karyotype is female;78% near diploid;22% near tetraploid;and all cells show chromosome aberrations;donor subject is a compound heterozygote for mutations in the ERCC2 gene: one allele carries a C-to-T substitution at nucleotide 2047 in the ERCC2 cDNA (2047C>T) which results in a change of Arg-683 to Trp Arg683Trp (R683W) and the second allele deletion of 78 nucleotides in exon 3 beginning at nucleotide 106 which results in the deltion of amino acids 36 to 61 (DEL 36_61).

Submission
Coriell; 2012-03-05
Accession:
SAMN00797956
ID:
797956

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center