Description:
ATAXIA-TELANGIECTASIA; AT
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Chromosome Abnormalities
Hereditary Cancers |
| Class |
Repair Defective and Chromosomal Instability Syndromes |
| Class |
Syndromes with Increased Chromosome Breakage |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Race
|
White
|
|
Family Member
|
2
|
|
Relation to Proband
|
mother
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
6 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Gene |
ATM |
| Chromosomal Location |
11q22.3 |
| Allelic Variant 1 |
LYS2756TER; ATAXIA-TELANGIECTASIA |
| Identified Mutation |
8266A>T |
| Remarks |
ATH16Be; clinically unaffected; normal sensitivity to cell killing by X-irradiation; an A>T substitution at nucleotide 8266 (8266A>T) in exon 58 causes a truncation at codon 2756 [Lys2756ter (K2756X)]; mother of 2 affected children (1 child is GM03189-LCL/GM03487-Fibro and other child is not in the repository); spouse of GM03187(LCL)/GM03488(Fibro); see GM03188 for donor LCL; |
| Peretz S, Jensen R, Baserga R, Glazer PM, ATM-dependent expression of the insulin-like growth factor-I receptor in a pathway regulating radiation response. Proc Natl Acad Sci U S A98(4):1676-81 2001 |
| PubMed ID: 11172010 |
| |
| Meredith MJ, Dodson ML, Imparied glutathione biosynthesis in cultured human ataxia- telangiectasia cells. Cancer Res47:4576-81 1987 |
| PubMed ID: 3621155 |
| |
| Nagasawa H, Latt SA, Lalande ME, Little JB, Effects of X-irradiation on cell-cycle progression, induction of chromosomal aberrations and cell killing in ataxia telangiectasia (AT) fibroblasts. Mutat Res148:71-82 1985 |
| PubMed ID: 3969079 |
| |
| Kinsella TJ, Mitchell JB, McPherson S, Russo A, Tietze F, In vitro X-ray sensitivity in ataxia telangiectasis homozygote and heterozygote skin fibroblasts under oxic and hypoxic conditions. Cancer Res42:3950-6 1982 |
| PubMed ID: 7104995 |
| 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 |
| Passage Frozen |
6 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
|
|