GM11254
LCL from B-Lymphocyte
Description:
ATAXIA-TELANGIECTASIA; AT
ATAXIA-TELANGIECTASIA MUTATED GENE; ATM
Repository
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NIGMS Human Genetic Cell Repository
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Subcollection |
Heritable Diseases Hereditary Cancers Chromosome Abnormalities |
Class |
Repair Defective and Chromosomal Instability Syndromes |
Class |
Syndromes with Increased Chromosome Breakage |
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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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 |
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GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227. |
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Gene |
ATM |
Chromosomal Location |
11q22.3 |
Allelic Variant 1 |
; ATAXIA-TELANGIECTASIA |
Identified Mutation |
c.8786+1G>A |
Remarks |
AT6LA; Mormon; onset of ataxia at age 2.5; telangiectasia noted at age 8; elevated serum AFP; negative family history for AT or cancer; IDDM in family; complementation group A; new NGS data revealed that the donor subject has a heterozygous splice donor mutation in the ATM gene (GRCh37, hg 19) at Chr11: 108224608 (GRCh37): c.8786+1G>A. |
Jiang L, Lin R, Gallagher S, Zayac A, Butchbach MER, Hung P, Development and validation of a 4-color multiplexing spinal muscular atrophy (SMA) genotyping assay on a novel integrated digital PCR instrument Scientific reports10:19892 2020 |
PubMed ID: 33199817 |
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Langaee T, El Rouby N, Stauffer L, Galloway C, Cavallari LH, Development and Cross-Validation of High-Resolution Melting Analysis-Based Cardiovascular Pharmacogenetics Genotyping Panel Genetic testing and molecular biomarkers10:19892 2019 |
PubMed ID: 30758238 |
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Hacia JG, Sun B, Hunt N, Edgemon K, Mosbrook D, Robbins C, Fodor SP, Tagle DA, Collins FS, Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays. Genome Res8(12):1245-58 1998 |
PubMed ID: 9872980 |
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Concannon P, Gatti RA, Diversity of ATM gene mutations detected in patients with ataxia-telangiectasia. Hum Mutat10(2):100-7 1997 |
PubMed ID: 9259193 |
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Wei S, Charmley P, Concannon P, Organization, polymorphism, and expression of the human T-cell receptor AV1
subfamily. Immunogenetics45(6):405-12 1997 |
PubMed ID: 9089098 |
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Gilad S, Khosravi R, Shkedy D, Uziel T, Ziv Y, Savitsky K, Rotman G, Smith S, Chessa L, Jorgensen TJ, Harnik R, Frydman M, Sanal O, Portnoi S, Goldwicz Z, Jaspers NG, Gatti RA, Lenoir G, Lavin MF, Tatsumi K, Wegner RD, Shiloh Y, Bar-Shira A, Predominance of null mutations in ataxia-telangiectasia. Hum Mol Genet5(4):433-9 1996 |
PubMed ID: 8845835 |
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Telatar M, Wang Z, Udar N, Liang T, Bernatowska-Matuszkiewicz E, Lavin M, Shiloh Y, Concannon P, Good RA, Gatti RA, Ataxia-telangiectasia: mutations in ATM cDNA detected by protein- truncation screening. Am J Hum Genet59:40-4 1996 |
PubMed ID: 8659541 |
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Wright J, Teraoka S, Onengut S, Tolun A, Gatti RA, Ochs HD, Concannon P, A high frequency of distinct ATM gene mutations in ataxia- telangiectasia. Am J Hum Genet59:839-46 1996 |
PubMed ID: 8808599 |
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Young BR, Painter RB, Radioresistant DNA synthesis and human genetic diseases. Hum Genet82:113-7 1989 |
PubMed ID: 2722185 |
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Gatti RA, Berkel I, Boder E, Braedt G, Charmley P, Concannon P, Ersoy F, Foroud T, Jaspers NG, Lange K, Localization of an ataxia-telangiectasia gene to chromosome 11q22-23 Nature336:577-80 1988 |
PubMed ID: 3200306 |
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Jaspers NG, Gatti RA, Baan C, Linssen PC, Bootsma D, Genetic complementation analysis of ataxia telangiectasia and Nijmegen breakage syndrome: a survey of 50 patients. Cytogenet Cell Genet49:259-63 1988 |
PubMed ID: 3248383 |
dbSNP |
dbSNP ID: 11505 |
Gene Cards |
ATM |
Gene Ontology |
GO:0003677 DNA binding |
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GO:0003700 transcription factor activity |
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GO:0004674 protein serine/threonine kinase activity |
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GO:0005622 intracellular |
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GO:0005634 nucleus |
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GO:0006281 DNA repair |
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GO:0006355 regulation of transcription, DNA-dependent |
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GO:0007131 meiotic recombination |
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GO:0007165 signal transduction |
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GO:0016740 transferase activity |
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GO:0016773 phosphotransferase activity, alcohol group as acceptor |
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GO:0045786 negative regulation of cell cycle |
NCBI Gene |
Gene ID:472 |
NCBI GTR |
208900 ATAXIA-TELANGIECTASIA; AT |
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607585 ATAXIA-TELANGIECTASIA MUTATED GENE; ATM |
OMIM |
208900 ATAXIA-TELANGIECTASIA; AT |
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607585 ATAXIA-TELANGIECTASIA MUTATED GENE; ATM |
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 |
1:3 |
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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