GM25442
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
|
2
|
Family History
|
N
|
Relation to Proband
|
father
|
Confirmation
|
Molecular characterization before cell line submission to CCR
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
PDL at Freeze |
6.14 |
Passage Frozen |
3 |
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
|
Gene |
NPC1 |
Chromosomal Location |
18q11-q12 |
Allelic Variant 1 |
P1080IfsX18; NIEMANN-PICK DISEASE, TYPE C1 |
Identified Mutation |
PRO1080ILEfsX18 |
Remarks |
Unaffected carrier; NPC1 frameshift variant c.3234_3237_dupATTT (p.Pro1080Ilefsx18); donor subject is the father of affected proband (GM25439), unaffected carrier daughter (GM25438) and unaffected carrier son (GM25445); donor subject is the son of GM25441 and GM25444; repository family number 3221. |
Cumulative PDL at Freeze |
6.14 |
Passage Frozen |
3 |
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 |
15% fetal bovine serum Not inactivated |
Supplement |
- |
|
|