Coriell Institute
Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Chromosome Abnormalities
Class Repair Defective and Chromosomal Instability Syndromes
Class Syndromes with Increased Chromosome Breakage
Quantity 0.050mg
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Race Caucasian
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Clinically affected; diagnosed at age 2 yr; telangiectasias of eyes, arms, and legs since age 2 yr; wheelchair-dependent since age 8 yr; chromosome studies showed increased spontaneous breakage; donor subject is a compound heterozygote: one allele has a G>A change at nucleotide 2250 of the ATM gene (2250G>A) resulting in the in-frame skipping of exon 16 leading to a 42 codon deletion beginning at codon 709 (I709del42); the second allele has an A>G change in intron 49 (IVS49-2A>G) resulting in the in-frame skipping of exon 50 leading to a 38 codon deletion beginning at codon 2315 (M2315del38)
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 
Gene ATM
Chromosomal Location 11q22.3
Allelic Variant 1 exon 16 skipped, I709del42; ATAXIA-TELANGIECTASIA
Identified Mutation 2250G>A
 
Gene ATM
Chromosomal Location 11q22.3
Allelic Variant 2 skipped exon 50, M2315del38; ATAXIA-TELANGIECTASIA
Identified Mutation IVS49-2 A>G
Remark Clinically affected; diagnosed at age 2 yr; telangiectasias of eyes, arms, and legs since age 2 yr; wheelchair-dependent since age 8 yr; chromosome studies showed increased spontaneous breakage; donor subject is a compound heterozygote: one allele has a G>A change at nucleotide 2250 of the ATM gene (2250G>A) resulting in the in-frame skipping of exon 16 leading to a 42 codon deletion beginning at codon 709 (I709del42); the second allele has an A>G change in intron 49 (IVS49-2A>G) resulting in the in-frame skipping of exon 50 leading to a 38 codon deletion beginning at codon 2315 (M2315del38)
No data is available
No data is available
Split Ratio 1:2
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

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