GM01448 female unaffected Hypercholesterolemia aut... - BioSample - NCBI

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

Result Filters

Links from OMIM

GM01448 female unaffected Hypercholesterolemia autosomal dominant sample

Identifiers: BioSample: SAMN00803900; Coriell: GM01448

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	GM01448
sex	Female
cell type	B-Lymphocyte
family id	506
family role	proband
race	Caucasian
age	18 YR
Gene	LDLR
Mutation	GLY197DEL
collection	NIGMS Human Genetic Cell Repository

Tags: Low density lipoprotein receptor
LDLR
Hypercholesterolemia autosomal dominant

Description: Elevated serum cholesterol;affected father and sister;donor subject has one allele which has a 3 bp deletion at nucleotide 652 in exon 4 of the LDLR gene (652delGGT) resulting in the deletion of Gly197 Gly197del (G197del)

Submission: Coriell; 2012-03-05

Accession:: SAMN00803900
ID:: 803900

Supplemental Content

Related information

OMIM
OMIM links
PubMed
PubMed links
Taxonomy
Links to Taxonomy

Recent activity

Clear Turn Off Turn On

GM01448 female unaffected Hypercholesterolemia autosomal dominant sample
GM01448 female unaffected Hypercholesterolemia autosomal dominant sample

biosample
OMIM links for OMIM (Select 606945) (1)
BioSample

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

LinkOut to external resources

GM01448 (CVCL_4N13) [Cellosaurus - a cell line kno...]
GM01448 (CVCL_4N13)
Cellosaurus - a cell line knowledge resource

You are here: NCBI > DNA & RNA > BioSample