GM18407

GM18407 Fibroblast

Description:

NIEMANN-PICK DISEASE, TYPE C1; NPC1
NPC1 GENE; NPC1

Affected:

Yes

Sex:

Male

Age:

No Data

Overview

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Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
Lysosomal Storage Diseases

Class

Disorders of Lipid Metabolism

Cell Type

Fibroblast

Transformant

Untransformed

Family Member

1

Relation to Proband

proband

Confirmation

Molecular characterization before cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; fibroblasts showed 52 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 scored as "other" (see Park et al., 2003); the donor subject is a compound heterozygote at the NPC1 gene locus: allele 1 carries a substitution (G>A) at nucleotide 1211 (c.1211G>A) in exon 8, resulting in a missense mutation at codon 404 [R404Q (ARG404GLN)]; allele 2 carries a substitution (T>C) at nucleotide 3425 (c.3425T>C) in exon 22, resulting in a missense mutation at codon 1142 [M1142T (MET1142THR)]; the first nucleotide of the initiating MET codon is numbered +1.

Characterizations

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PDL at Freeze

6.81

Passage Frozen

1

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

R404Q; NIEMANN-PICK DISEASE, TYPE C1

Identified Mutation

ARG404GLN

Gene

NPC1

Chromosomal Location

18q11-q12

Allelic Variant 2

M1142T; NIEMANN-PICK DISEASE, TYPE C1

Identified Mutation

MET1142THR

Phenotypic Data

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Remarks

Clinically affected; fibroblasts showed 52 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 scored as "other" (see Park et al., 2003); the donor subject is a compound heterozygote at the NPC1 gene locus: allele 1 carries a substitution (G>A) at nucleotide 1211 (c.1211G>A) in exon 8, resulting in a missense mutation at codon 404 [R404Q (ARG404GLN)]; allele 2 carries a substitution (T>C) at nucleotide 3425 (c.3425T>C) in exon 22, resulting in a missense mutation at codon 1142 [M1142T (MET1142THR)]; the first nucleotide of the initiating MET codon is numbered +1.

External Links

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Gene Cards

Gene Ontology

GO:0004888 transmembrane receptor activity

GO:0005478 intracellular transporter activity

GO:0005624 membrane fraction

GO:0005764 lysosome

GO:0006886 intracellular protein transport

GO:0008158 hedgehog receptor activity

GO:0015248 sterol transporter activity

GO:0016021 integral to membrane

GO:0030301 cholesterol transport

NCBI Gene

NCBI GTR

257220 NIEMANN-PICK DISEASE, TYPE C1; NPC1

607623 NPC INTRACELLULAR CHOLESTEROL TRANSPORTER 1; NPC1

OMIM

257220 NIEMANN-PICK DISEASE, TYPE C1; NPC1

607623 NPC INTRACELLULAR CHOLESTEROL TRANSPORTER 1; NPC1

Omim Description

NIEMANN-PICK DISEASE WITH CHOLESTEROL ESTERIFICATION BLOCK

NIEMANN-PICK DISEASE, CHRONIC NEURONOPATHIC FORM

NIEMANN-PICK DISEASE, SUBACUTE JUVENILE FORM

NIEMANN-PICK DISEASE, TYPE C; NPC

NIEMANN-PICK DISEASE, TYPE C1; NPC1

Culture Protocols

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Passage Frozen

1

Split Ratio

1:7

Temperature

37 C

Percent CO2

5%

Percent O2

AMBIENT

Medium

Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent

Serum

15% fetal bovine serum Not inactivated

Supplement

-

Pricing

International/Commercial/For-profit:

$373.00USD

U.S. Academic/Non-profit/Government:

$216.00USD