GM10378
LCL from B-Lymphocyte
Description:
FRASER SYNDROME
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Other Disorders of Known Biochemistry |
| Alternate IDs |
GM17107 [FRASER SYNDROME] |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
LCL from B-Lymphocyte
|
|
Race
|
Black/African American
|
|
Ethnicity
|
AFRICAN-AMERICAN
|
|
Family Member
|
3
|
|
Relation to Proband
|
father
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
| |
| Remarks |
Clinically unaffected; 2 affected children; affected son is GM10379 and GM10381 Fibroblast; 46,XY,inv(9) with 10% random chromosome loss in lymphoblasts; affected son has same inv(9) |
| Bouaoud J, Olivetto M, Testelin S, Dakpe S, Bettoni J, Devauchelle B, Fraser syndrome: review of the literature illustrated by a historical adult case International journal of oral and maxillofacial surgery: 2019 |
| PubMed ID: 31982235 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
|
|