GM04994 male affected PXE sample

Warning: The NCBI web site requires JavaScript to function. more...

Result Filters

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	GM04994
sex	Male
cell type	Fibroblast
race	Caucasian
age	60 YR
Gene	ABCC6
affected_by	PXE
Mutation	ARG1141TER
Mutation	ARG1164TER
collection	NIGMS Human Genetic Cell Repository

Tags: Pseudoxanthoma elasticum autosomal recessive
PXE
Atp-binding cassette, subfamily c member 6
ABCC6

Description: Clinically affected;similarly affected sib;involvement includes eyes;skin;& gastrointestinal tract;neither parent showed signs of PXE;donor subject is a compound heterozygote: allele 1 carries a C>T transition at nucleotide 3421 (3421C>T) in exon 24 of the ABCC6 gene resulting in an Arg to Ter substitution at codon 1141 Arg1141Ter (R1141X);allele 2 carries a C>T transition at nucleotide 3490 (3490C>T) in exon 24 resulting in an Arg to Ter substitution at codon 1164 Arg1164Ter (R1164X) .