Format

Send to:

Choose Destination

Links from PubMed

GM03123 female affected NPC1 sample

Identifiers
BioSample: SAMN00808257; Coriell: GM03123
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 lineGM03123
sexFemale
cell typeFibroblast
family id451
family roleproband
raceCaucasian
age9 YR
GeneNPC1
affected_byNPC1
MutationILE1061THR
MutationPRO237SER
collectionNIGMS Human Genetic Cell Repository
Tags
Niemann-pick disease type c1
NPC1
Npc1 gene
Description

See GM03124 Lymphoid;38% of normal sphingomyelinase activity;normal B-galactosidase activity;and impaired cholesterol esterification in fibroblasts;the donor subject is a compound heterozygote;one allele carries a missense mutation C>T at nucleotide 709 (709C>T) in exon 6 of the NPC1 gene;resulting in a substitution of a serine for a proline at codon 237 Pro237Ser (P237S);the second allele also carries a missense mutation T>C at nucleotide 3182 (3182T>C) in exon 21 which results in the substitution of a threonine for an isoluecine at codon 1061 Ile1061Thr (I1061T) in a transmembrane domain.

Submission
Coriell; 2012-03-05
Accession:
SAMN00808257
ID:
808257

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center