GM22692
LCL from B-Lymphocyte
Description:
ATAXIA-TELANGIECTASIA; AT
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Hereditary Cancers |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Possibly Epstein-Barr Virus
|
|
Sample Source
|
LCL from B-Lymphocyte
|
|
Race
|
White
|
|
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
|
|
| 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 |
| 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). |
| 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 |
| NCBI GTR |
208900 ATAXIA-TELANGIECTASIA; AT |
| OMIM |
208900 ATAXIA-TELANGIECTASIA; AT |
| Omim Description |
AT, COMPLEMENTATION GROUP A, INCLUDED; ATA, INCLUDED |
| |
AT, COMPLEMENTATION GROUP C, INCLUDED; ATC, INCLUDED |
| |
AT, COMPLEMENTATION GROUP D, INCLUDED; ATD, INCLUDED |
| |
AT, COMPLEMENTATION GROUP E, INCLUDED; ATE, INCLUDED |
| |
AT1 |
| |
ATAXIA-TELANGIECTASIA; AT |
| |
LOUIS-BAR SYNDROMEATAXIA-TELANGIECTASIA MUTATED, INCLUDED; ATM, INCLUDED |
| 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 |
| Supplement |
- |
|