GM22691 ATAXIA-TELANGIECTASIA; AT Skin, Unspecified Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM22691 ATAXIA-TELANGIECTASIA; AT Skin, Unspecified Cell Line
共济失调-毛细血管扩张；在细胞株
Description描述：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锟絪 lymphoblast; for more information, refer to Patient V4 in publication by Alterman et al (PMID: 17632790).
Category分类：Fibroblast
ID编号:NTCC®-GM22691
Size/Quantity数量: 1 Flask/2 Vials
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT/Dry Ice
Storage储存方式: RT/Liquid Nitrogen
Race: White
Age年龄:15 YR
Gender性别:Male
Cell Type细胞类型: ATAXIA-TELANGIECTASIA; AT
Affected State:Yes
Product:Fibroblast
Gene:ATM
Mutations突变:5653delA
Ethnicity:CIRCASSIAN
Family:2884
Relationship:proband
Karyotype:
Tissue Type组织来源:Skin
Complete Growth Medium完全培养基: BioVector® Dulbecco Modified Eagles Medium (high glucose) with 2mM L-glutamine or equivalent Complete Medium
Subculturing传代方法:
Cryopreservation冻存方法:Freeze medium: Complete growth medium supplemented with 5% (v/v) DMSO
Storage temperature: liquid nitrogen vapor phase
Culture Conditions培养条件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鉴定数据:
References参考文献:

Supplier供应商:BioVector质粒载体菌株细胞蛋白抗体基因保藏中心
NTCC典型培养物保藏中心
Tel电话：400-800-2947
Email：Biovector@163.com
http://www.biovector.net