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 |
9 |
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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 |
R404Q; NIEMANN-PICK DISEASE, TYPE C1 |
| Identified Mutation |
ARG404GLN |
| Remarks |
Clinically affected; fibroblasts showed no detectable activity in a cholesterol esterification assay; fibroblasts were scored as npc-like in a filipin staining assay [see Park et al. Hum Mut 22:313-325 (2003)]; a complementation test showed that the cells were type 1 (see Park et al., 2003); the donor subject carries a mutation 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)]; the mutation in allele 2 has not been identified; 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)] (homozygous); IVS12+8(G)9-14; the first nucleotide of the initiating MET codon is numbered +1. |
| Gupta A, Rivera-Molina F, Xi Z, Toomre D, Schepartz A, Endosome motility defects revealed at super-resolution in live cells using HIDE probes Nature chemical biology: 2019 |
| PubMed ID: 32094922 |
| Passage Frozen |
9 |
| Split Ratio |
1:2 |
| 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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