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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Race
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White
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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 |
6.3 |
| Passage Frozen |
21 |
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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 |
T137M; NIEMANN-PICK DISEASE, TYPE C1 |
| Identified Mutation |
THR137MET |
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| Gene |
NPC1 |
| Chromosomal Location |
18q11-q12 |
| Allelic Variant 2 |
; NIEMANN-PICK DISEASE, TYPE C1 |
| Identified Mutation |
2336insT |
| Remarks |
Clinically affected; diagnosed at 10 yr; deceased at 14 yr; brother with NPC; clumsy; learning difficulties; ataxia; vertical gaze palsy; dysarthria; cataplexy; dysphagia; gastrostomy; breathing difficulties; repeated pneumonia; epilepsy; wheelchair bound; severe difficulty with movement; absence of communication; tube fed; fibroblasts showed 76 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 "NA" in a filipin staining assay (see Park et al., 2003); the donor subject is a compound heterozygote at the NPC1 gene locus: allele 1 carries a substitution (C>T) at nucleotide 410 (c.410C>T) in exon 4 resulting in a missense mutation at codon 137 [T137M (THR137MET)]; allele 2 carries an insertion (insT) at nucleotide 2336 (c.2336insT) in exon 15; the subject also carries the following polymorphism: (T>C) at nucleotide 387 (c.387T>C) resulting in no change (Y>Y) at codon 129 [Y129Y, (TYR129TYR)]; the first nucleotide of the initiating Met codon is numbered +1; culture is a slow grower |
| 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 |
| Passage Frozen |
21 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| Medium |
Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Supplement |
- |
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