GM22745
LCL from B-Lymphocyte
Description:
ATAXIA-TELANGIECTASIA; AT
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Heritable Diseases |
Biopsy Source
|
Peripheral vein
|
Cell Type
|
B-Lymphocyte
|
Tissue Type
|
Blood
|
Transformant
|
Epstein-Barr Virus
|
Sample Source
|
LCL from B-Lymphocyte
|
Race
|
White
|
Ethnicity
|
Hispanic/Latino
|
Ethnicity
|
MEXICAN/AMERICAN
|
Country of Origin
|
USA
|
Family History
|
N
|
Relation to Proband
|
proband
|
Confirmation
|
Clinical summary/Case history
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
|
Remarks |
Clinically affected; ataxia first observed at age 13-14 months; telangiectasias first observed between 18 months to 30 months; elevated serum alpha-fetoprotein (165 ng/ml-normal ref value is 0-15 ng/ml; normal IgG and IgM levels; ear infections at least twice per year due to sinus drainage when weather changes. |
NCBI GTR |
208900 ATAXIA-TELANGIECTASIA; AT |
OMIM |
208900 ATAXIA-TELANGIECTASIA; AT |
Omim Description |
AT, COMPLEMENTATION GROUP A, INCLUDED; ATA, INCLUDED |
|
AT, COMPLEMENTATION GROUP C, INCLUDED; ATC, INCLUDED |
|
AT, COMPLEMENTATION GROUP D, INCLUDED; ATD, INCLUDED |
|
AT, COMPLEMENTATION GROUP E, INCLUDED; ATE, INCLUDED |
|
AT1 |
|
ATAXIA-TELANGIECTASIA; AT |
|
LOUIS-BAR SYNDROMEATAXIA-TELANGIECTASIA MUTATED, INCLUDED; ATM, INCLUDED |
Split Ratio |
1:2 |
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 |
- |
|