GM23150
LCL from B-Lymphocyte
Description:
NIEMANN-PICK DISEASE, TYPE C1; NPC1
NPC1 GENE; NPC1
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
LCL from B-Lymphocyte
|
|
Race
|
White
|
|
Family History
|
N
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Gene |
NPC1 |
| Chromosomal Location |
18q11-q12 |
| Allelic Variant 1 |
; NIEMANN_PICK DISEASE, TYPE C1 |
| Identified Mutation |
IVS2+1G>T |
| Remarks |
Clinically affected; splenomegaly; vertical supranuclear gaze palsy; joint laxity/hypotonia; apraxia; expressive language diminished; seizures; abnormal raspy voice; eczema; macrocephaly; developmental delays; gait ataxia; cataplexy; elevated urine carnosine (117 umol/g cr); cultured fibroblasts from this subject show zero cholesterol esterification; donor subject is heterozygous for a splice site mutation: a G>T transversion at the +1 position in intron 2 of the NPC1 gene [IVS2+1G>T]; no other mutation has as yet been identified |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
|
|