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 2
Family History N
Relation to Proband brother
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Clinically affected; milder neurological phenotype than classic A-T; normal childhood development; examination at 9.5 years of age: mild bilateral conjunctival telangiectasia, normal gait, ability to hop on one foot, no nystagmus, no dysmetria, no choreoathetosis, some tendency to sway while sitting, difficulty standing in one position with feet together, difficulty with tandem gait, mild dysarthria, tendency for drooling, disdiadochokinesis, and difficulty with handwriting; no history of sinopulmonary infections; elevated serum alpha fetoprotein (92.5 ng/ml, normal ref value is 0-15 ng/ml) and low levels of IgG4 (<0.01 g/L, normal ref value is 0.11-1.57 g/L); brain MRI revealed enlargement of the 4th ventricle and atrophy of the vermis; A-T Neurological Index Score (91, Z=4.31); no ATM was detected in the donor'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 GM22961(fibroblast)/GM22963(B-lymphocyte); see GM22690 for donor’s fibroblast line; for more information, refer to Patient V6 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; examination at 9.5 years of age: mild bilateral conjunctival telangiectasia, normal gait, ability to hop on one foot, no nystagmus, no dysmetria, no choreoathetosis, some tendency to sway while sitting, difficulty standing in one position with feet together, difficulty with tandem gait, mild dysarthria, tendency for drooling, disdiadochokinesis, and difficulty with handwriting; no history of sinopulmonary infections; elevated serum alpha fetoprotein (92.5 ng/ml, normal ref value is 0-15 ng/ml) and low levels of IgG4 (<0.01 g/L, normal ref value is 0.11-1.57 g/L); brain MRI revealed enlargement of the 4th ventricle and atrophy of the vermis; A-T Neurological Index Score (91, Z=4.31); no ATM was detected in the donor'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 GM22961(fibroblast)/GM22963(B-lymphocyte); see GM22690 for donor’s fibroblast line; for more information, refer to Patient V6 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 1:3
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