Description:
NIEMANN-PICK DISEASE, TYPE C2
NPC2 GENE; NPC2
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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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| PDL at Freeze |
5.62 |
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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 |
NPC2 |
| Chromosomal Location |
14q24.3 |
| Allelic Variant 1 |
V30M; NIEMANN-PICK DISEASE, TYPE C2 |
| Identified Mutation |
VAL30MET |
| Remarks |
Clinically affected variant; fibroblasts showed 1532 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 "partial" in a filipin staining assay (see Park et al., 2003); a complementation test showed that the cells were scored as "other" (see Park et al., 2003); the donor subject carries a mutation at the NPC2 gene locus: allele 1 carries a substitution (G>A) at nucleotide 88 (c.88G>A) in exon 2, resulting in a missense mutation at codon 30 [V30M (VAL30MET)]; the mutation in allele 2 has not been identified; the first nucleotide of the initiating MET codon is numbered +1. |
| Split Ratio |
1:5 |
| 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 |
| Supplement |
- |
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