Description:
NIEMANN-PICK DISEASE, TYPE C1; NPC1
NPC1 GENE; NPC1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
| Class |
Disorders of Lipid Metabolism |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| Passage Frozen |
16 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Gene |
NPC1 |
| Chromosomal Location |
18q11-q12 |
| Allelic Variant 1 |
G248V; NIEMANN-PICK DISEASE, TYPE C1 |
| Identified Mutation |
GLY248VAL |
| |
| Gene |
NPC1 |
| Chromosomal Location |
18q11-q12 |
| Allelic Variant 2 |
M1142T; NIEMANN-PICK DISEASE, TYPE C1 |
| Identified Mutation |
MET1142THR |
| Remarks |
Clinically affected; fibroblasts showed 103 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 a substitution (G>T) at nucleotide 743 (c.743G>T) in exon 6, resulting in a missense mutation at codon 248 [G248V (GLY248VAL)]; 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 subject also carries the following polymorphisms: homozygous substitution (A>G) at nucleotide 644 (644A>G) resulting in a missense mutation (H>R) at codon 215 [H215R (HIS215ARG)], homozygous substitution (A>G) at nucleotide 2572 (2572A>G) resulting in a missense mutation (I>V) at codon 858 [I858V (ILE858VAL)], IVS12+8(G)9-14; the first nucleotide of the initiating MET codon is numbered +1. |
| Zareba J, Cattaneo EF, Villani A, Othman A, Streb S, Peri F, NPC1 links cholesterol trafficking to microglial morphology via the gastrosome Nature communications15:8638 2024 |
| PubMed ID: 39366931 |
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| Furtado D, Cortez-Jugo C, Hung YH, Bush AI, Caruso F, mRNA Treatment Rescues Niemann-Pick Disease Type C1 in Patient Fibroblasts Molecular pharmaceutics19:3987-3999 2022 |
| PubMed ID: 36125338 |
| Passage Frozen |
16 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| 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 |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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