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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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 |
5.35 |
| Passage Frozen |
18 |
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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 |
607623.0002; NIEMANN-PICK DISEASE, TYPE C1 |
| Identified Mutation |
THR1036MET; In a patient with NPC disease, Carstea et al. (1997) observed homozygosity for a 3107C-T transition of the NPC1 gene that resulted in a thr1036-to-met amino acid substitution. The same mutation was found as one allele in a compound heterozygote. This patient was apparently unrelated to the first.
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| Remarks |
Clinically affected; fibroblasts showed 1 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); the donor subject is either homozygous at the NPC1 gene locus or allele 2 is a deletion: allele 1 carries a substitution (C>T) at nucleotide 3107 (3107C>T) in exon 21, resulting in a missense mutation at codon 1036 [T1036M (THR1036MET)]; the subject also carries the following polymorphisms: homozygous substitution A>G at nucleotide 644 (644A>G) resulting in the substitution of arginine for histidine (H>R) at codon 215 [H215R (HIS215ARG)]; homozygous substitution (A>G) at nucleotide 2572 (c.2572A>G) resulting in a missense mutation (I>V) at codon 858 [I858V (ILE858VAL)]; the first nucleotide of the initiating MET codon is numbered +1; homozygous substitution C>T at nucleotide 2793 (2793C>T) resulting in no change (N>N) at codon 931 [N931N (ASN931ASN)]; homozygous substitution T>C at nucleotide IVS19+28 (IVS19+28T>C) resulting in no change in the predicted amino acid sequence; the first nucleotide of the initiating MET codon is numbered +1. |
| Passage Frozen |
18 |
| 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 |
| Supplement |
- |
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