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GM15877 female affected XPD sample

Identifiers
BioSample: SAMN00804218; Coriell: GM15877
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 lineGM15877
sexFemale
cell typeFibroblast
family id1212
family roleproband
raceCaucasian
age19 YR
affected_byXPD
collectionNIGMS Human Genetic Cell Repository
Tags
XPD
Xeroderma pigmentosum, complementation group d
Excision-repair: complementing defective in chinese hamster 2
ERCC2
Description

The cell line (also known as D6BE-ER2-9) is a derivative of the SV40 Transformed immortalized version of the primary xeroderma pigmentosum fibroblast complementation group D fibroblast GM08207 (XP6BE);which was subsequently transfected with p2E-ER2;a complementary DNA expression construct of the ERCC2 (XPD) gene;to correct the abnormal phenotype;GM15877 shows normal cellular resistance to UV irradiation;normal DNA repair of damaged shuttle vector plasmid and restoration of transcription of a UV damaged CAT expression vector;the XPD protein expression is about 18 fold greater than in the SV40 Transformed parent ( Gozukara et al;Cancer Res;54:3837-44;1994);the corrected phenotype of GM15877 requires selection with 0.6mg/ml of Geneticin (G418)

Submission
Coriell; 2012-03-05
Accession:
SAMN00804218
ID:
804218

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