Description:
NIEMANN-PICK DISEASE, TYPE C2
NPC2 GENE; NPC2
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
| Class |
Disorders of Lipid Metabolism |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Molecular characterization before cell line submission to CCR
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
5.59 |
| Passage Frozen |
5 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Gene |
NPC2 |
| Chromosomal Location |
14q24.3 |
| Allelic Variant 1 |
; NIEMANN-PICK DISEASE, TYPE C2 |
| Identified Mutation |
IVS1+2T>C |
| |
| Gene |
NPC2 |
| Chromosomal Location |
14q24.3 |
| Allelic Variant 2 |
; NIEMANN-PICK DISEASE, TYPE C2 |
| Identified Mutation |
IVS1+2T>C |
| Remarks |
Clinically affected; fibroblasts showed 21 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)]; a complementation test showed that the cells were type 2 (see Park et al., 2003); the donor subject is homozygous at the NPC2 gene locus: both alleles carry a substitution (T>C) at nucleotide IVS1+2 (g.IVS1+2T>C) in intron 1, resulting in a splicing defect; the first nucleotide of the initiating MET codon is numbered +1. |
| Liu EA, Schultz ML, Mochida C, Chung C, Paulson HL, Lieberman AP, Fbxo2 mediates clearance of damaged lysosomes and modifies neurodegeneration in the Niemann-Pick C brain JCI insight: 2020 |
| PubMed ID: 32931479 |
| Passage Frozen |
5 |
| Split Ratio |
1:3 |
| 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 |
| Substrate |
None specified |
| Supplement |
- |
|
|