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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Race
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White
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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 |
8 |
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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 |
C74Y; NIEMANN-PICK DISEASE, TYPE C1 |
| Identified Mutation |
CYS74TYR |
| Remarks |
Clinically affected; diagnosed at age 30 mo; deceased at age 10 yr; family history of NPC; born with abnormal swelling of abdomen; jaundice; hepatosplenomegaly at birth; clumsy; vertical gaze palsy; ataxia; dysarthria; cataplexy; dysphagia; gastrostomy; breathing difficulties; asthma; seizures; wheelchair bound; fibroblasts showed 38 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 of the type 1 complementation group (see Park et al., 2003); donor subject carries a mutation at the NPC1 gene locus: allele 1 carries a substitution (G>A) at nucleotide 221 (c.221G>A) in exon 3, resulting in a missense mutation at codon 74 [Cys74Tyr (C74Y)]; the mutation in allele 2 has not been identified; the subject also carries the following polymorphisms: C>T at nucleotide 709 (709C>T) in exon 6 which results in a missense mutation (P>S) at codon 237 [P237S (Pro237Ser)]; A>G at nucleotide 644 (644A>G) in exon 5 which results in a missense mutation (H>R) at codon 215 [H215R (His215Arg)]; A>G at nucleotide 2572 (2572A>G) in exon 17 which results in a missense mutation (I>V) at codon 858 [I858V (Ile858Val)]; the first nucleotide of the initiating Met codon is numbered +1. |
| Pepponi R, De Simone R, De Nuccio C, Visentin S, Matteucci A, Bernardo A, Popoli P, Ferrante A, Repurposing Dipyridamole in Niemann Pick Type C Disease: A Proof of Concept Study International journal of molecular sciences23: 2022 |
| PubMed ID: 35408815 |
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| Visentin S, De Nuccio C, Bernardo A, Pepponi R, Ferrante A, Minghetti L, Popoli P, The stimulation of adenosine A2A receptors ameliorates the pathological phenotype of fibroblasts from Niemann-Pick type C patients The Journal of neuroscience : the official journal of the Society for Neuroscience33:15388-93 2013 |
| PubMed ID: 24068806 |
| Passage Frozen |
8 |
| Split Ratio |
1:4 |
| 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 |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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