GM23152
Fibroblast from Skin, Arm
Description:
NIEMANN-PICK DISEASE, TYPE C1; NPC1
NPC1 GENE; NPC1
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Heritable Diseases Lysosomal Storage Diseases |
Biopsy Source
|
Arm
|
Cell Type
|
Fibroblast
|
Tissue Type
|
Skin
|
Transformant
|
Untransformed
|
Sample Source
|
Fibroblast from Skin, Arm
|
Race
|
White
|
Ethnicity
|
SCOTTISH/IRISH
|
Family Member
|
4
|
Family History
|
N
|
Relation to Proband
|
father
|
Confirmation
|
Clinical summary/Case history
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
PDL at Freeze |
4.14 |
Passage Frozen |
2 |
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
|
Gene |
NPC1 |
Chromosomal Location |
18q11-q12 |
Allelic Variant 1 |
193 bp insertion; NIEMANN-PICK DISEASE, TYPE C1 |
Identified Mutation |
IVS9-1009G>A |
Remarks |
Clinically normal father of affected monozygotic twins (GM22227 and GM22256); see GM22567 Lymphoid; donor subject is heterozygous for a missense mutation: IVS9-1009G>A |
Cumulative PDL at Freeze |
4.14 |
Passage Frozen |
2 |
Split Ratio |
1:4 |
Temperature |
37 C |
Percent CO2 |
5% |
Percent O2 |
3% |
Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
Serum |
10% fetal bovine serum Not inactivated |
Substrate |
None specified |
Supplement |
- |
|
|