GM28308
Fibroblast from Skin, Skin
Description:
BLAU SYNDROME; BLAUS
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
PIGI Consented Sample |
|
Biopsy Source
|
Skin
|
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Skin
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
Fibroblast from Skin, Skin
|
|
Race
|
White
|
|
Subject Type
|
trio
|
|
Ethnicity
|
Not Hispanic/Latino
|
|
Ethnicity
|
Netherlands
|
|
Country of Origin
|
NETHERLANDS
|
|
Family Member
|
3
|
|
Family History
|
N
|
|
Relation to Proband
|
father
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
7.8 |
| Passage Frozen |
3 |
| |
| Remarks |
Unaffected father of affected son GM28303 (LCL) and GM28304 (fibro); LCL is GM28307. |
| NCBI GTR |
186580 BLAU SYNDROME; BLAUS |
| OMIM |
186580 BLAU SYNDROME; BLAUS |
| Omim Description |
ARTHROCUTANEOUVEAL GRANULOMATOSIS; ACUG |
| |
BLAU SYNDROME |
| |
GRANULOMATOSIS, FAMILIAL, BLAU TYPE |
| |
GRANULOMATOUS INFLAMMATORY ARTHRITIS, DERMATITIS, AND UVEITIS, FAMILIAL |
| |
JABS SYNDROME |
| |
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES |
| Cumulative PDL at Freeze |
7.8 |
| Passage Frozen |
3 |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| Medium |
Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Supplement |
- |
|
|