GM13661
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
|
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 |
R2993X; ATAXIA-TELANGIECTASIA |
Identified Mutation |
ARG2993TER |
|
Gene |
ATM |
Chromosomal Location |
11q22.3 |
Allelic Variant 2 |
; ATAXIA-TELANGIECTASIA |
Identified Mutation |
splicing mutation in exon21 |
Remarks |
AT399AIV2 (3204); ataxia at age 1 1/2 years; diagnosed at age 2; elevated AFP; donor subject is a compound heterozygote: the maternal allele carries a C-to-T transition (CGA>TGA) at nucleotide 8977 (8977C>T) which converts the arg-2993 codon in exon 64 of the ATM gene to a nonsense codon [ARG2993TER (R2993X)]; the paternal allele contains a splicing mutation in exon 21. |
dbSNP |
dbSNP ID: 11846 |
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 |
1:5 |
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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