GM03325
LCL from B-Lymphocyte
Description:
ATAXIA-TELANGIECTASIA; AT
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Heritable Diseases Chromosome Abnormalities |
Class |
Repair Defective and Chromosomal Instability Syndromes |
Class |
Syndromes with Increased Chromosome Breakage |
Biopsy Source
|
Peripheral vein
|
Cell Type
|
B-Lymphocyte
|
Tissue Type
|
Blood
|
Transformant
|
Epstein-Barr Virus
|
Sample Source
|
LCL from B-Lymphocyte
|
Race
|
White
|
Family Member
|
6
|
Relation to Proband
|
sister
|
Confirmation
|
Clinical summary/Case history
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
|
GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a negative result with a primer for Yq11, DYS227. |
|
Remarks |
Possible heterozygote; clinically normal; see GM03491 Fibroblast |
dbSNP |
dbSNP ID: 10637 |
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 |
1:5 |
Temperature |
37 C |
Percent CO2 |
5% |
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 |
- |
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