GM18390

GM18390 Fibroblast

Description:

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

Affected:

Yes

Sex:

Female

Age:

No Data

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
Lysosomal Storage Diseases

Class

Disorders of Lipid Metabolism

Cell Type

Fibroblast

Transformant

Untransformed

Relation to Proband

proband

Confirmation

Molecular characterization before cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; fibroblasts showed no detectable activity in a cholesterol esterification assay; a complementation test showed that the cells were scored as "other" [see Park et al. Hum Mut 22:313-325 (2003)]; the donor subject is a compound heterozygote at the NPC1 gene locus: allele 1 carries a substitution (G>C) at nucleotide 724 (c.724G>C) in exon 6, resulting in a missense mutation at codon 242 [D242H (ASP242HIS)]; allele 2 carries a substitution (C>T) at nucleotide 2819 (c.2819C>T) in exon 19, resulting in a missense mutation at codon 940 [S940L (SER940LEU)]; the subject also carries the following polymorphisms: (T>C) at nucleotide 387 (387T>C) resulting in a silent mutation (Y>Y) at codon 129 [Y129Y, (TYR129TYR)]; (A>G) at nucleotide 644 (644A>G) resulting in a missense mutation (H>R) at codon 215 [H215R (HIS215ARG)]; (A>G) at nucleotide 2572 (c.2572A>G) resulting in a missense mutation (I>V) at codon 858 [I858V (ILE858VAL)]; the first nucleotide of the initiating MET codon is numbered +1.