GM13326
LCL from B-Lymphocyte
Description:
ATAXIA-TELANGIECTASIA; AT
ATAXIA-TELANGIECTASIA MUTATED GENE; ATM
TRANSLOCATED CHROMOSOME
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
|
Transformant
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Epstein-Barr Virus
|
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 and by Chromosome Analysis |
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GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a negative result with a primer for Yq11, DYS227. |
|
Gene |
ATM |
Chromosomal Location |
11q22.3 |
Allelic Variant 1 |
W>X; ATAXIA-TELANGIECTASIA |
Identified Mutation |
c.1179_1180del (p.Trp393*) |
|
Gene |
ATM |
Chromosomal Location |
11q22.3 |
Allelic Variant 2 |
R1466X; ATAXIA-TELANGIECTASIA |
Identified Mutation |
c.4396C>T (p.Arg1466*) |
Remarks |
AT16LA; onset of ataxia at age 14-18 months; diagnosed at age 2.5; telangiectasias severe over bulbar conjunctiva; ocular apraxia; 46,XX,inv(14)(q12;q32) with telomeric fusions in PBL; affected sibling (not in repository); culture shows increased radiosensitivity; new NGS data revealed that the donor subject is a compound heterozygote with mutations in the ATM gene (GRCh37, hg 19): c.1179_1180del (p.Trp393*) and c.4396C>T (p.Arg1466*); heterozygous mutations present in the PALB2 gene, NM_024675.3: c.3508C>T (p.His1170Tyr), and the PMS2 gene, NM_000535.5: c.88C>A (p.Gln30Lys). |
Becker-Catania SG, Chen G, Hwang MJ, Wang Z, Sun X, Sanal O, Bernatowska-Matuszkiewicz E, Chessa L, Lee EY, Gatti RA, Ataxia-telangiectasia: phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity Molecular genetics and metabolism70:122-33 2000 |
PubMed ID: 10873394 |
|
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 |
|
Kojis TL, Schreck RR, Gatti RA, Sparkes RS, Tissue specificity of chromosomal rearrangements in ataxia- telangiectasia. Hum Genet83:347-52 1989 |
PubMed ID: 2807275 |
dbSNP |
dbSNP ID: 11767 |
Gene Cards |
ATM |
Gene Ontology |
GO:0003677 DNA binding |
|
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 |
|
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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