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
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 AT409AIV2; clinically affected; diagnosed at fourteen years of age; elevated serum AFP (19; normal range is 0-8.9); one allele of the ATM gene carries a G-to-A transition at nucleotide 2250 (2250G>A) at codon 709 which results in the deletion of 72 bp and the skipping of exon 16.
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
Remark AT409AIV2; clinically affected; diagnosed at fourteen years of age; elevated serum AFP (19; normal range is 0-8.9); one allele of the ATM gene carries a G-to-A transition at nucleotide 2250 (2250G>A) at codon 709 which results in the deletion of 72 bp and the skipping of exon 16.
No data is available
No data is available
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

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