GM27864
LCL from B-Lymphocyte
Description:
RETT SYNDROME, CONGENITAL VARIANT
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Heritable Diseases PIGI Consented Sample FOXG1 |
Biopsy Source
|
Peripheral vein
|
Cell Type
|
B-Lymphocyte
|
Tissue Type
|
Blood
|
Transformant
|
Epstein-Barr Virus
|
Sample Source
|
LCL from B-Lymphocyte
|
Race
|
White
|
Ethnicity
|
Spanish
|
Country of Origin
|
SPAIN
|
Family Member
|
3
|
Family History
|
N
|
Relation to Proband
|
father
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
|
Remarks |
Unaffected father of affected child, GM27851 (fibro), GM27852(lymph); NGS (sequencing) revealed that this parent does not have the FOXG1 variant found in the child. |
Split Ratio |
1:5 |
Temperature |
37 C |
Percent CO2 |
5% |
Percent O2 |
AMBIENT |
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 |
- |
|
|