GM25438
Fibroblast from Skin, Skin
Description:
NIEMANN-PICK DISEASE, TYPE C1; NPC1
NPC1 GENE; NPC1
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases
PIGI Consented Sample |
|
Biopsy Source
|
Skin
|
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Skin
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
Fibroblast from Skin, Skin
|
|
Race
|
Asian
|
|
Ethnicity
|
Not Hispanic/Latino
|
|
Ethnicity
|
Chinese
|
|
Country of Origin
|
USA
|
|
Family Member
|
5
|
|
Family History
|
Y
|
|
Relation to Proband
|
sister
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
5.68 |
| Passage Frozen |
2 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Gene |
NPC1 |
| Chromosomal Location |
18q11-q12 |
| Allelic Variant 1 |
p.Ser738*; NIEMANN-PICK DISEASE, TYPE C1 |
| Identified Mutation |
SER738* |
| Remarks |
Unaffected carrier; sequence analysis results revealed that subject is heterozygous for the NPC1 nonsense variant c.2213C>A (p.Ser738*) that the mother (GM25443) carries; negative for the NPC1 frameshift variant c.3234_3237dupATTT that the father (GM25442) carries; family history: clinically affected sister (GM25439) who is a compound heterozygote for variants c.2213C>A and c.3234_3237dupATTT; and an unaffected carrier brother (GM25445); repository family number 3221. |
| Cumulative PDL at Freeze |
5.68 |
| Passage Frozen |
2 |
| Split Ratio |
1:3 |
| 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 |
15% fetal bovine serum Not inactivated |
| Supplement |
- |
|
|