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
Chromosome Abnormalities |
| Class |
Repair Defective and Chromosomal Instability Syndromes |
| Class |
Syndromes with Increased Chromosome Breakage |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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White
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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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| PDL at Freeze |
4.76 |
| Passage Frozen |
18 |
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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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| REVERSE TRANSCRIPTASE |
Srivastava et al (Mech Ageing Dev 51:133-138, 1990) reported that they were unable to detect reverse transcriptase-like activity in this cell culture. |
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| Remarks |
Neurologic disability and dramatic telangiectasia; elevated serum alpha-fetoprotein; random chromosome abnormalities in 60% of cells karyotyped; 46,XY |
| Sirocchi C, Biancucci F, Donati M, Bogliolo A, Magnani M, Menotta M, Montagna S, Exploring machine learning for untargeted metabolomics using molecular fingerprints Computer methods and programs in biomedicine250:108163 2023 |
| PubMed ID: 38626559 |
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| Ricci A, Biancucci F, Morganti G, Magnani M, Menotta M, New human ATM variants are able to regain ATM functions in ataxia telangiectasia disease Cellular and molecular life sciences : CMLS79:601 2022 |
| PubMed ID: 36422718 |
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| Ricci A, Orazi S, Biancucci F, Magnani M, Menotta M, The nucleoplasmic interactions among Lamin A/C-pRB-LAP2a-E2F1 are modulated by dexamethasone Scientific reports11:10099 2020 |
| PubMed ID: 33980953 |
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| Ricci A, Galluzzi L, Magnani M, Menotta M, DDIT4 gene expression is switched on by a new HDAC4 function in ataxia telangiectasia FASEB journal : official publication of the Federation of American Societies for Experimental Biology34:1802-1818 2019 |
| PubMed ID: 31914654 |
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| Lu X, Lane DP, Differential induction of transcriptionally active p53 following UV or ionizing radiation: defects in chromosome instability syndromes? Cell75:765-78 1993 |
| PubMed ID: 8242748 |
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| Srivastava A, Shmookler Reis RJ, Goldstein S, Absence of reverse transcriptase activity in human diploid fibroblasts. Mech Ageing Dev51:133-8 1990 |
| PubMed ID: 1689785 |
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| Bender MA, Viola MV, Fiore J, Thompson MH, Leonard RC, Normal G2 chromosomal radiosensitivity and cell survival in the cancer family syndrome [see comments] Cancer Res48:2579-84 1988 |
| PubMed ID: 3356018 |
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| Huang, Genetic and biochemical studies with ataxia telangiectasia: A review. Hum Genet59:1-9 1981 |
| PubMed ID: 10819014 |
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| Moses RE, Beaudet AL, Apurinic DNA endonuclease activities in repair-deficient human cell lines. Nucleic Acids Res5:463-73 1978 |
| PubMed ID: 634794 |
| dbSNP |
dbSNP ID: 17675 |
| 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 |
| Passage Frozen |
18 |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Supplement |
- |
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