GM22693
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
|
1
|
|
Family History
|
N
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Molecular characterization before cell line submission to CCR
|
|
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; 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 |
| 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 |
1:4 |
| 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 |
| Supplement |
- |
|
|