NA18397
DNA from Fibroblast
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 |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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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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Sample Source
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DNA from Fibroblast
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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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| PDL at Freeze |
4.92 |
| Passage Frozen |
20 |
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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 |
607623.0003; NIEMANN-PICK DISEASE, TYPE C1 |
| Identified Mutation |
ASN1156SER; In each of 2 unrelated NPC disease patients, Carstea et al. (1997) found compound heterozygosity at the NPC1 locus with one of the mutations being a 3467A-G transition, resulting in an asn1156-to-ser amino acid substitution in the NPC1 protein. The authors noted that asn1156 is conserved in human, mouse, C. elegans, and S. cerevisiae orthologs of NPC1.
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| Gene |
NPC1 |
| Chromosomal Location |
18q11-q12 |
| Allelic Variant 2 |
R1186H; NIEMANN-PICK DISEASE, TYPE C1 |
| Identified Mutation |
ARG1186HIS |
| Remarks |
Clinically affected; fibroblasts showed 127 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 (A>G) at nucleotide 3467 (c.3467A>G) in exon 22, resulting in a missense mutation at codon 1156 [N1156S (ASN1156SER)]; allele 2 carries a substitution (A>G) at nucleotide 3557 (c.3557A>G) in exon 23, resulting in a missense mutation at codon 1186 [R1186H(ARG1186HIS)]; the first nucleotide of the initiating MET codon is numbered +1. This fibroblast is a characteristically poor grower and will only be shipped frozen; requires particular care during growth; the recommended seeding density is 15,000 to 20,000 cells per cm2. |
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