Coriell Institute
Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Race Asiatic Indian
Family History N
Relation to Proband proband
Confirmation Molecular characterization before cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks Clinically affected; ataxia first observed at 8 months of age; unsteady walker at 18 months of age; telangiectasias observed in eyes at 5 1/2 years of age; elevated alpha fetoprotein (86); chronic cough; reduced IgA; normal IgG; elevated IgM; no family history of cancer; subject is a full time kindergarten student; parents are first cousins; donor subject is homozygous for a 1 bp deletion at nucleotide 3198 in exon 24 of the ATM gene (3198delA) resulting in a frameshift and a premature stop codon
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin confirmed by LINE assay
 
Gene ATM
Chromosomal Location 11q22.3
Allelic Variant 1 ; ATAXIA TELANGIECTASIA
Identified Mutation 3198delA
 
Gene ATM
Chromosomal Location 11q22.3
Allelic Variant 2 ; ATAXIA TELANGIECTASIA
Identified Mutation 3198delA
Remark Clinically affected; ataxia first observed at 8 months of age; unsteady walker at 18 months of age; telangiectasias observed in eyes at 5 1/2 years of age; elevated alpha fetoprotein (86); chronic cough; reduced IgA; normal IgG; elevated IgM; no family history of cancer; subject is a full time kindergarten student; parents are first cousins; donor subject is homozygous for a 1 bp deletion at nucleotide 3198 in exon 24 of the ATM gene (3198delA) resulting in a frameshift and a premature stop codon
No data is available
No data is available
Split Ratio 1:3
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
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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