NTCC® NA18366 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA18366

Name：NTCC® NA18366 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA18366
Size/Quantity数量: 1 Vial
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT
Storage储存方式: 4C
Species物种来源:
Age年龄: 6 YR
Gender性别: Male
Description描述: SECKEL SYNDROME | ATAXIA-TELANGIECTASIA AND RAD3-RELATED; ATR
Remarks: Clinically affected; striking microcephaly; 106 cm (-4.8 SD) tall with a head circumference of 37 cm (-12 SD) at age 9; receding forehead; micrognathia; prominent nose; crowded teeth; dental malocclusion; mild thoracic kyphosis; moderate mental retardation; first walked at age 7 years; a mutation at nucleotide 2101A>G causes increased levels of skipping exon 9 and activation of two cryptic splicing events from sites in exon 9 leading to termination in exon 10; splicing of exon 9 is inefficient in mutant cells, but a small amount of correctly spliced mRNA was observed; fibroblast cell line derived from the proband showed an impaired response to DNA damage induced by UV radiation but had a normal in response to ionizing radiation; cells showed a low level of expression of the ATR protein; cells are hypersensitive to mitomycin C and UV in a survival assay (see more information in PMID: 12640452); subject referred to as V6 in publication by Goodship, et al (PMID: 10889046) and as F02-98 in several other publications.
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: ATR
Disease疾病类型:
Mutations突变: 2101A>G
Karyotypes核型:
Cytogenetics:
Mutation description突变描述:
Origin:
Transformants:
Alias别名:
Images图片:
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
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