GM28289
LCL from B-Lymphocyte
Description:
BLAU SYNDROME; BLAUS
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
PIGI Consented Sample |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
LCL from B-Lymphocyte
|
|
Race
|
White
|
|
Subject Type
|
parent/child discordant pair
|
|
Ethnicity
|
Danish
|
|
Country of Origin
|
GERMANY
|
|
Family Member
|
2
|
|
Family History
|
N
|
|
Relation to Proband
|
mother
|
|
Confirmation
|
Molecular characterization before cell line submission to CCR
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Remarks |
Unaffected mother of an affect daughter (GM28267). Not a carrier. |
| 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 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
20% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
|
|