Coriell Institute
Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Possibly Epstein-Barr Virus
Race Caucasian
Ethnicity CIRCASSIAN
Country of Origin ISRAEL
Family Member 1
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: milder neurological phenotype than classic A-T; normal childhood development; normal childhood development; progressive gait unsteadiness and dysarthria developed by age 6; examination at age 16 years: conjunctival telangiectasia, bilateral endgaze-evoked nystagmus, oculomotor apraxia apparent in large gaze-shifts, mild dysarthria and hypomimea, end-point dysmetria, mild choreiform movements at rest enhanced by mental or physical activation, and hyporeflexia; pertinent normal features include good strength and normal sensory thresholds for small and large fiber modalities; ataxic gait, but able to walk independently with caution; no history of recurrent sinopulmonary infections; laboratory tests revealed elevated levels of serum alpha fetoprotein(201.5 ng/ml, normal ref value is 0-15 ng/ml), IgM(2.38 g/L, normal ref value is 0.4-2.3 g/L), and IgG1(12.53 g/L, normal ref value is 3.15-8.55 g/L), and lower levels of IgA(<0.234 g/L, normal ref value is 0.7-4 g/L), IgG2(0.25 g/L, normal ref value is 0.64-4.95 g/L) and IgE(<3 U/ml, normal ref value is 20-100 U/ml); brain MRI revealed moderate atrophy of the vermis and cerebellum; A-T Neurological Index Score (66, Z=4.95); no ATM was detected in the patient's cells and Mre11 levels were normal; donor subject is homozygous for a 1 bp deletion at nucleotide 5653 in exon 39 of the ATM gene (5653delA) resulting in a frameshift at codon 1885 leading to truncation at codon 1915; consanguineous family; affected brother is GM22960(Fibroblast)/GM22962(B-lymphocyte); see GM22691 for donor’s fibroblast; for more information, refer to Patient V4 in publication by Alterman et al (PMID: 17632790).
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 5653delA
 
Gene ATM
Chromosomal Location 11q22.3
Allelic Variant 2 ; ATAXIA-TELANGIECTASIA
Identified Mutation 5653delA
Remark Clinically affected: milder neurological phenotype than classic A-T; normal childhood development; normal childhood development; progressive gait unsteadiness and dysarthria developed by age 6; examination at age 16 years: conjunctival telangiectasia, bilateral endgaze-evoked nystagmus, oculomotor apraxia apparent in large gaze-shifts, mild dysarthria and hypomimea, end-point dysmetria, mild choreiform movements at rest enhanced by mental or physical activation, and hyporeflexia; pertinent normal features include good strength and normal sensory thresholds for small and large fiber modalities; ataxic gait, but able to walk independently with caution; no history of recurrent sinopulmonary infections; laboratory tests revealed elevated levels of serum alpha fetoprotein(201.5 ng/ml, normal ref value is 0-15 ng/ml), IgM(2.38 g/L, normal ref value is 0.4-2.3 g/L), and IgG1(12.53 g/L, normal ref value is 3.15-8.55 g/L), and lower levels of IgA(<0.234 g/L, normal ref value is 0.7-4 g/L), IgG2(0.25 g/L, normal ref value is 0.64-4.95 g/L) and IgE(<3 U/ml, normal ref value is 20-100 U/ml); brain MRI revealed moderate atrophy of the vermis and cerebellum; A-T Neurological Index Score (66, Z=4.95); no ATM was detected in the patient's cells and Mre11 levels were normal; donor subject is homozygous for a 1 bp deletion at nucleotide 5653 in exon 39 of the ATM gene (5653delA) resulting in a frameshift at codon 1885 leading to truncation at codon 1915; consanguineous family; affected brother is GM22960(Fibroblast)/GM22962(B-lymphocyte); see GM22691 for donor’s fibroblast; for more information, refer to Patient V4 in publication by Alterman et al (PMID: 17632790).
Alterman N, Fattal-Valevski A, Moyal L, Crawford TO, Lederman HM, Ziv Y, Shiloh Y, Ataxia-telangiectasia: mild neurological presentation despite null ATM mutation and severe cellular phenotype American journal of medical genetics Part A143A:1827-34 2007
PubMed ID: 17632790
No data is available
Split Ratio 1:4
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

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