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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Family Member
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1
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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 |
4.77 |
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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 |
C93F; NIEMANN-PICK DISEASE, TYPE C2 |
| Identified Mutation |
CYS93PHE |
| |
| Gene |
NPC2 |
| Chromosomal Location |
14q24.3 |
| Allelic Variant 2 |
C93F; NIEMANN-PICK DISEASE, TYPE C2 |
| Identified Mutation |
CYS93PHE |
| Remarks |
Clinically affected; the donor subject is homozygous for a substitution (G>T) at nucleotide 278 (c.278G>T) in exon 3 in the NPC2 gene, resulting in a missense mutation at codon 93 [C93F (Cys93Phe)]; the subject also carries the following polymorphism in the NPC1 gene: G>A at nucleotide 3797 (c.3797G>A) resulting in a substitution of glutamine for arginine (R>Q) at codon 1266 [R1266Q (Arg1266Gln)]; the first nucleotide of the initiating Met codon is numbered +1; fibroblasts showed 4 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 2 complementation group (see Park et al., 2003). |
| Xu M1, Liu K, Swaroop M, Porter FD, Sidhu R, Firnkes S, Ory DS, Marugan JJ, Xiao J, Southall N, Pavan WJ, Davidson C, Walkley SU, Remaley AT, Baxa U, Sun W, McKew JC, Austin CP, Zheng W., δ-Tocopherol reduces lipid accumulation in Niemann-Pick type C1 and Wolman cholesterol storage disorders. J Biol Chem287(47):39349-60 2012 |
| PubMed ID: 23035117 |
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| Park WD, O'Brien JF, Lundquist PA, Kraft DL, Vockley CW, Karnes PS, Patterson MC, Snow K, Identification of 58 novel mutations in Niemann-Pick disease type C: Correlation with biochemical phenotype and importance of PTC1-like domains in NPC1. Hum Mutat22(4):313-25 2003 |
| PubMed ID: 12955717 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| 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 |
| Supplement |
- |
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