GM22690共济失调-毛细血管扩张； AT 皮肤，未特指成纤维细胞Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM22690 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; 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 GM22692 for donor锟絪 lymphoblast line; for more information, refer to Patient V6 in publication by Alterman et al (PMID: 17632790).
Category分类：Fibroblast
ID编号:NTCC®-GM22690
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:6 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:brother
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:

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