GM00435 female affected XPD sample

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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 line	GM00435
sex	Female
cell type	Fibroblast
family id	502
family role	sister
race	Caucasian
age	23 YR
Gene	ERCC2
affected_by	XPD
Mutation	ARG683TRP
collection	NIGMS Human Genetic Cell Repository

Tags: XPD
Xeroderma pigmentosum, complementation group d
Excision-repair: complementing defective in chinese hamster 2
ERCC2

Description: De Sanctis-Cacchione;XP2NE;30 to 50% of normal post UV unscheduled DNA synthesis;donor subject is homozygous for 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) .

GM00435 female affected XPD sample
GM00435 female affected XPD sample

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