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. |
| 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 |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
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