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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| 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 |
D700N; NIEMANN-PICK DISEASE, TYPE C1 |
| Identified Mutation |
ASP700ASN |
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| Gene |
NPC1 |
| Chromosomal Location |
18q11-q12 |
| Allelic Variant 2 |
607623.0021; NIEMANN-PICK DISEASE, TYPE C1 |
| Identified Mutation |
c.3662delT |
| Remarks |
Clinically affected; diagnosed at age 10 years; deceased at 12 years; clumsy; learning difficulties; ataxia; vertical gaze palsy; dysarthria; cataplexy; dysphagia; gastrostomy; epilepsy (grand mal seizures); sleeping problems; needed walking assistance at all times; severe difficulty in movement; unintelligable speech to all but family members; fibroblasts showed 13 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 tests showed that the cells were scored as "other" (see Park et al., 2003); donor subject is a compound heterozygote at the NPC1 gene locus: allele 1 carries a substitution (G>A) at nucleotide 2098 (c.2098G>A) in exon 13, resulting in a missense mutation at codon 700 [Asp700Asn (D700N)]; allele 2 carries a one base pair deletion at nucleotide 3662 (c.3662delT) in exon 24, resulting in a frameshift mutation at codon 1221 [F1221fsX]; the first nucleotide of the initiating Met codon is numbered +1. |
| Kataura T, Sedlackova L, Sun C, Kocak G, Wilson N, Banks P, Hayat F, Trushin S, Trushina E, Maddocks ODK, Oblong JE, Miwa S, Imoto M, Saiki S, Erskine D, Migaud ME, Sarkar S, Korolchuk VI, Targeting the autophagy-NAD axis protects against cell death in Niemann-Pick type C1 disease models Cell death & disease15:382 2023 |
| PubMed ID: 38821960 |
| Split Ratio |
1:3 |
| 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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