Description:
NIEMANN-PICK DISEASE, TYPE C1; NPC1
NPC1 GENE; NPC1
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
| Class |
Disorders of Lipid Metabolism |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Race
|
White
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Molecular characterization before cell line submission to CCR
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
5.81 |
| Passage Frozen |
20 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Gene |
NPC1 |
| Chromosomal Location |
18q11-q12 |
| Allelic Variant 1 |
D874V; NIEMANN-PICK DISEASE, TYPE C1 |
| Identified Mutation |
ASP874VAL |
| |
| Gene |
NPC1 |
| Chromosomal Location |
18q11-q12 |
| Allelic Variant 2 |
Y890X; NIEMANN-PICK DISEASE, TYPE C1 |
| Identified Mutation |
TYP890TER |
| Remarks |
Clinically affected; diagnosed at 33 yr; deceased one week before 40th birthday; other family members with NPC; neonatal jaundice; yellow sclera for three days; MRI showed iron deposits, mild sucal widening, and bilateral frontal hyperperfusion; ataxia; vertical gaze palsy; dysarthria; dysphagia; organic affective disorder; sleep walking; moderate movement difficulty; no verbal communication; constant difficulty swallowing; fibroblasts showed 44 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>T) at nucleotide 2621 (c.2621A>T) in exon 18, resulting in a missense mutation at codon 874 [D874V (ASP874VAL)]; allele 2 carries a substitution (C>G) at nucleotide 2670 (c.2670C>G) in exon 18, resulting in a nonsense mutation at codon 890 [Y890X (TYR890TER)]; the subject also carries the following polymorphisms: (T>C) at nucleotide 387 (387T>C) resulting in a silent mutation (Y>Y) at codon 129 [Y129Y, (TYR129TYR)]; (C>G) at nucleotide 1926 (1926C>G) in exon 12 resulting in a missense mutation (I>M) at codon 642 [I642M (ILE642MET)]; IVS12+8(G)9-14; 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. |
| Kataura T, Sedlackova L, Sun C, Kocak G, Wilson N, Banks P, Hayat F, Trushin S, Trushina E, Maddocks ODK, Oblong JE, Miwa S, Imoto M, Saiki S, Erskine D, Migaud ME, Sarkar S, Korolchuk VI, Targeting the autophagy-NAD axis protects against cell death in Niemann-Pick type C1 disease models Cell death & disease15:382 2023 |
| PubMed ID: 38821960 |
| Passage Frozen |
20 |
| Split Ratio |
1:2 |
| 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 |
- |
|
|