GM00719
LCL from B-Lymphocyte
Description:
ATAXIA-TELANGIECTASIA; AT
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Repair Defective and Chromosomal Instability Syndromes |
| Class |
Syndromes with Increased Chromosome Breakage |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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LCL from B-Lymphocyte
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Race
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White
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| 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 |
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| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a negative result with a primer for Yq11, DYS227. |
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| Remarks |
46,XX; two sibs also affected; lymphoid culture shows hypersensitivity to X irradiation |
| Boehme KA, Kulikov R, Blattner C, p53 stabilization in response to DNA damage requires Akt/PKB and DNA-PK Proceedings of the National Academy of Sciences of the United States of America105:7785-90 2008 |
| PubMed ID: 18505846 |
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| 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 |
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| Lin WC, Lin FT, Nevins JR, Selective induction of E2F1 in response to DNA damage, mediated by ATM-dependent phosphorylation. Genes Dev15(14):1833-44 2001 |
| PubMed ID: 11459832 |
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| Siliciano JD, Canman CE, Taya Y, Sakaguchi K, Appella E, Kastan MB, DNA damage induces phosphorylation of the amino terminus of p53. Genes Dev11:3471-81 1997 |
| PubMed ID: 9407038 |
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| 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: 10363 |
| NCBI GTR |
208900 ATAXIA-TELANGIECTASIA; AT |
| OMIM |
208900 ATAXIA-TELANGIECTASIA; AT |
| Omim Description |
AT, COMPLEMENTATION GROUP A, INCLUDED; ATA, INCLUDED |
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AT, COMPLEMENTATION GROUP C, INCLUDED; ATC, INCLUDED |
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AT, COMPLEMENTATION GROUP D, INCLUDED; ATD, INCLUDED |
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AT, COMPLEMENTATION GROUP E, INCLUDED; ATE, INCLUDED |
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AT1 |
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ATAXIA-TELANGIECTASIA; AT |
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LOUIS-BAR SYNDROMEATAXIA-TELANGIECTASIA MUTATED, INCLUDED; ATM, INCLUDED |
| Split Ratio |
1:2 |
| 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 |
- |
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