GM22691
Fibroblast from Skin, Unspecified
Description:
ATAXIA-TELANGIECTASIA; AT
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Hereditary Cancers |
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Biopsy Source
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Unspecified
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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Fibroblast from Skin, Unspecified
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Race
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White
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Ethnicity
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CIRCASSIAN
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Country of Origin
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ISRAEL
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Family Member
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1
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Family History
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N
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| PDL at Freeze |
5.55 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
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| Gene |
ATM |
| Chromosomal Location |
11q22.3 |
| Allelic Variant 1 |
; ATAXIA-TELANGIECTASIA |
| Identified Mutation |
5653delA |
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| 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 GM22693 for donor’s lymphoblast; 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 |
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AT, COMPLEMENTATION GROUP C, INCLUDED; ATC, INCLUDED |
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AT, COMPLEMENTATION GROUP D, INCLUDED; ATD, INCLUDED |
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AT, COMPLEMENTATION GROUP E, INCLUDED; ATE, INCLUDED |
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AT1 |
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ATAXIA-TELANGIECTASIA; AT |
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LOUIS-BAR SYNDROMEATAXIA-TELANGIECTASIA MUTATED, INCLUDED; ATM, INCLUDED |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
10% |
| Percent O2 |
AMBIENT |
| Medium |
Dulbecco Modified Eagles Medium (high glucose) with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Supplement |
- |
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