NA18455
DNA from Fibroblast
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 |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
DNA from Fibroblast
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Molecular characterization before cell line submission to CCR
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
6.51 |
| Passage Frozen |
3 |
| |
| 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 |
601015.0001; NIEMANN-PICK DISEASE, TYPE C2 |
| Identified Mutation |
GLU20TER |
| |
| Gene |
NPC2 |
| Chromosomal Location |
14q24.3 |
| Allelic Variant 2 |
C47F; NIEMANN-PICK DISEASE, TYPE C2 |
| Identified Mutation |
CYS47PHE |
| Remarks |
Clinically affected; the donor subject is a compound heterozygote at the NPC2 gene locus: allele 1 carries a substitution (G>T) at nucleotide 58 (c.58G>T) in exon 1, resulting in a nonsense mutation at codon 20 [E20X (GLU20TER)]; allele 2 carries a substitution (G>T) at nucleotide 140 (c.140G>T) in exon 2, resulting in a missense mutation at codon 47 [C47F (CYS47PHE)]; the first nucleotide of the initiating MET codon is numbered +1; fibroblasts showed no detectable activity in a cholesterol esterification assay; a complementation test showed that the cells were type 2 [see Park et al. Hum Mut 22:313-325 (2003)]. 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. |
| Liedtke M, Völkner C, Hermann A, Frech MJ, Impact of Organelle Transport Deficits on Mitophagy and Autophagy in Niemann-Pick Disease Type C Cells11: 2022 |
| PubMed ID: 35159316 |
| |
| Juhl AD, Heegaard CW, Werner S, Schneider G, Krishnan K, Covey DF, Wüstner D, Quantitative imaging of membrane contact sites for sterol transfer between endo-lysosomes and mitochondria in living cells Scientific reports11:8927 2020 |
| PubMed ID: 33903617 |
| |
| Juhl AD, Lund FW, Jensen MLV, Szomek M, Heegaard CW, Guttmann P, Werner S, McNally J, Schneider G, Kapishnikov S, Wüstner D, Niemann Pick C2 protein enables cholesterol transfer from endo-lysosomes to the plasma membrane for efflux by shedding of extracellular vesicles Chemistry and physics of lipids235:105047 2020 |
| PubMed ID: 33422548 |
| |
| 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 insight235:105047 2020 |
| PubMed ID: 32931479 |
| |
| McCauliff LA, Langan A, Li R, Ilnytska O, Bose D, Waghalter M, Lai K, Kahn PC, Storch J, Intracellular cholesterol trafficking is dependent upon NPC2 interaction with Lysobisphosphatidic Acid eLife8:105047 2019 |
| PubMed ID: 31580258 |
| |
| Petersen D, Reinholdt P, Szomek M, Hansen SK, Poongavanam V, Dupont A, Heegaard CW, Krishnan K, Fujiwara H, Covey DF, Ory DS, Kongsted J, Wüstner D, Binding and intracellular transport of 25-hydroxycholesterol by Niemann-Pick C2 protein Biochimica et biophysica acta Biomembranes8:183063 2019 |
| PubMed ID: 31521631 |
| |
| Völkner C, Peter F, Liedtke M, Krohn S, Lindner I, Murua Escobar H, Cimmaruta C, Lukas J, Hermann A, Frech MJ, Generation of the Niemann-Pick type C2 patient-derived iPSC line AKOSi001-A Stem cell research41:101606 2019 |
| PubMed ID: 31669975 |
| |
| Berzina Z, Solanko LM, Mehadi AS, Jensen MLV, Lund FW, Modzel M, Szomek M, Solanko KA, Dupont A, Nielsen GK, Heegaard CW, Ejsing CS, Wüstner D, Niemann-Pick C2 protein regulates sterol transport between plasma membrane and late endosomes in human fibroblasts Chemistry and physics of lipids213:48-61 2018 |
| PubMed ID: 29580834 |
| |
| Höglinger D, Burgoyne T, Sanchez-Heras E, Hartwig P, Colaco A, Newton J, Futter CE, Spiegel S, Platt FM, Eden ER, NPC1 regulates ER contacts with endocytic organelles to mediate cholesterol egress Nature communications10:4276 2017 |
| PubMed ID: 31537798 |
| |
| Modzel M, Solanko KA, Szomek M, Hansen SK, Dupont A, Nåbo LJ, Kongsted J, Wüstner D, Live-cell imaging of new polyene sterols for improved analysis of intracellular cholesterol transport Journal of microscopy10:4276 2017 |
| PubMed ID: 29516493 |
| |
| Wang ML, Motamed M, Infante RE, Abi-Mosleh L, Kwon HJ, Brown MS, Goldstein JL, Identification of surface residues on Niemann-Pick C2 essential for hydrophobic handoff of cholesterol to NPC1 in lysosomes Cell metabolism12:166-73 2010 |
| PubMed ID: 20674861 |
|
|