GM16667
Fibroblast from Skin, Unspecified
Description:
ATAXIA-TELANGIECTASIA; AT
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Repair Defective and Chromosomal Instability Syndromes |
| Class |
Syndromes with Increased Chromosome Breakage |
|
Biopsy Source
|
Unspecified
|
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Skin
|
|
Transformant
|
Simian Virus 40
|
|
Sample Source
|
Fibroblast from Skin, Unspecified
|
|
Race
|
White
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
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 |
| |
| Remarks |
Donor had cerebellar ataxia, telangiectases, high alpha-fetoprotein levels, chromosomal instability, and immunodeficiency; derivative of an SV40-transformed fibroblast line obtained by transfecting the cell line with the ATM expression contruct YZ5; line grown in the presence of 100ug/ml hygromycin; corrected cell line |
| Sarkar A, Gandhi V, Activation of ATM kinase by ROS generated during ionophore-induced mitophagy in human T and B cell malignancies Molecular and cellular biochemistry: 2020 |
| PubMed ID: 32996079 |
| |
| Sarkar A, Stellrecht CM, Vangapandu HV, Ayres M, Kaipparettu BA, Park JH, Balakrishnan K, Burks JK, Pandita TK, Hittelman WN, Neelapu SS, Gandhi V, Ataxia telangiectasia mutated interacts with Parkin and induces mitophagy independent of kinase activity Evidence from mantle cell lymphoma Haematologica: 2019 |
| PubMed ID: 32029507 |
| |
| Tolbert CE, Beck MV, Kilmer CE, Srougi MC., Loss of ATM positively regulates Rac1 activity and cellular migration through oxidative stress Biochemical and Biophysical Research Communications508:1155-1161 2019 |
| PubMed ID: 30553448 |
| |
| McKerlie M, Lin S, Zhu XD, ATM regulates proteasome-dependent subnuclear localization of TRF1, which is important for telomere maintenance Nucleic acids research40:3975-89 2012 |
| PubMed ID: 22266654 |
| |
| Ziv Y, Bar-Shira A, Pecker I, Russell P, Jorgensen TJ, Tsarfati I, Shiloh Y, Recombinant ATM protein complements the cellular A-T phenotype. Oncogene15(2):159-67 1997 |
| PubMed ID: 9244351 |
| dbSNP |
dbSNP ID: 18970 |
| 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 |
10% |
| Percent O2 |
AMBIENT |
| Medium |
Dulbecco Modified Eagles Medium (high glucose) with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Heat Inactivated |
| Supplement |
Hygromycin B 100 ug/ml |
|