NA18422
DNA from Fibroblast
Description:
NIEMANN-PICK DISEASE, TYPE C1; NPC1
NPC1 GENE; NPC1
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
| Class |
Disorders of Lipid Metabolism |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
DNA from Fibroblast
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Molecular characterization before cell line submission to CCR
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
7.68 |
| Passage Frozen |
26 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Gene |
NPC1 |
| Chromosomal Location |
18q11-q12 |
| Allelic Variant 1 |
Ile271del; NIEMANN-PICK DISEASE, TYPE C1 |
| Identified Mutation |
813_815delCAT |
| |
| Gene |
NPC1 |
| Chromosomal Location |
18q11-q12 |
| Allelic Variant 2 |
D874V; NIEMANN-PICK DISEASE, TYPE C1 |
| Identified Mutation |
ASP874VAL |
| Remarks |
Clinically affected; fibroblasts showed 48 pmol CE/mg protein/6 hr activity in a cholesterol esterification assay [normal mean was 1855 +/- 1327 pmol CE/mg protein/6 hr, see Park et al. Hum Mut 22:313-325 (2003)]; fibroblasts were scored as npc-like in a filipin staining assay (see Park et al., 2003); a complementation test showed that the cells were type 1 (see Park et al., 2003); the donor subject is a compound heterozygote at the NPC1 gene locus: allele 1 carries an in-frame deletion (delCAT) at nucleotide 813-815 (c.813_815delCAT) in exon 6, resulting in a deletion of codon 271 [I271del (ILE271del)]; allele 2 carries a substitution (A>T) at nucleotide 2621A>T (c.2621A>T) in exon 18, resulting in a missense mutation at codon 874 [D874V (ASP874VAL)]; the first nucleotide of the initiating MET codon is numbered +1. |
|
|