GM02783
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
|
|
Ethnicity
|
IRANIAN
|
|
Family Member
|
2
|
|
Relation to Proband
|
brother
|
|
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 |
| |
| MEX PHENOTYPES |
Arita et al (Mutation Res 208:167-172,1988) classified this lymphoblastoid culture as having a Mex- phenotype. It was sensitive to cell killing by 1-(4-amino-2-methyl-5-pyrimidinyl)-methyl-3-(2-chloroethyl)-3-nitrosourea hydrochloride and had extremely low levels of O6-alkylguanine-DNA-alkyltransferase activity. The authors suggested that the Mex- phenotype was unstable as a small fraction of cells which survived the cytotoxicity assay showed a stable Mex+ phenotype. |
| |
| Remarks |
AT21IJE-F; hypersensitive to the lethal effects of gamma-irradiation; see GM02530 for donor Fibroblast; similarly affected sibling (GM02782-LCL/GM02531-Fibro); unaffected mother is GM02781 (LCL). |
| Smirnov DA, Cheung VG, ATM Gene Mutations Result in Both Recessive and Dominant Expression Phenotypes of Genes and MicroRNAs American journal of human genetics83:243-53 2008 |
| PubMed ID: 18674748 |
| |
| Mirzayans R, Famulski KS, Enns L, Fraser M, Paterson MC, Characterization of the signal transduction pathway mediating gamma ray- induced inhibition of DNA synthesis in human cells: indirect evidence for involvement of calmodulin but not protein kinase C nor p53. Oncogene11:1597-605 1995 |
| PubMed ID: 7478584 |
| |
| Caporossi D, Porfirio B, Nicoletti B, Palitti F, Degrassi F, De Salvia R, Tanzarella C, Hypersensitivity of lymphoblastoid lines derived from ataxia telangiectasia patients to the induction of chromosomal aberrations by etoposide (VP-16) Mutation research290:265-72 1993 |
| PubMed ID: 7694118 |
| |
| Arita I, Tatsumi K, Tachibana A, Toyoda M, Takebe H, Instability of Mex- phenotype in human lymphoblastoid cell lines. Mutat Res208:167-72 1988 |
| PubMed ID: 3165159 |
| |
| Berliner N, Duby AD, Morton CC, Leder P, Seidman JG, Detection of a frequent restriction fragment length polymorphism in the human T cell antigen receptor beta chain locus. A potential diagnostic tool. J Clin Invest76:1283-5 1985 |
| PubMed ID: 2995449 |
| |
| Tatsumi K, Takebe H, Gamma-irradiation induces mutation in ataxia-telangiectasia lymphoblastoid cells. Gann75:1040-3 1984 |
| PubMed ID: 6526217 |
| |
| Cohen MM, Sagi M, Ben-Zur Z, Schaap T, Voss R, Kohn G, Ben-Bassat H, Ataxia telangiectasia: chromosomal stability in continuous lymphoblastoid cell lines. Cytogenet Cell Genet23:44-52 1979 |
| PubMed ID: 761484 |
| dbSNP |
dbSNP ID: 10573 |
| 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 |
1:4 |
| 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 |
- |
|