Name：NTCC? NA18366 Fibroblast DNA
Category分類：DNA
Cat#貨號(hào):NTCC?-Coriell NA18366
Size/Quantity數(shù)量: 1 Vial
Biosafety Level生物安全級(jí)別:1
Shipping Info運(yùn)輸方式: RT
Storage儲(chǔ)存方式: 4C
Species物種來(lái)源:
Age年齡: 6 YR
Gender性別: 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其他編號(hào):
Cell Type細(xì)胞類型: Fibroblast
Source組織來(lái)源: Fibroblast
Gene: ATR
Disease疾病類型:
Mutations突變: 2101A>G
Karyotypes核型:
Cytogenetics:
Mutation description突變描述:
Origin:
Transformants:
Alias別名:
Images圖片:
References參考文獻(xiàn):

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