NTCC® NA08296 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA08296

Name：NTCC® NA08296 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA08296
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: 18 YR
Gender性别: Male
Description描述: TUBEROUS SCLEROSIS 2; TSC2 | TSC2 GENE; TSC2
Remarks: Clinically affected; diagnosed with epilepsy at age 10 mo.; at age 2 yrs with TS; skin lesions at 10 mo.; height 165 cm and weight 65.3 kg at age 18 yr; numerous adenofibromas about face; shagreen patches; CT scan of brain revealed multiple punctate calcifications along periphery of lateral ventricles, consistent with calcified tubers of TS, parenchymal calcifications noted in right frontal and left temporo-parietal regions, bilobed or mushroom-shaped mass in the region of the left foramen of Monro (~2 x 2.5 cm); renal ultrasound showed numerous bilateral echogenic masses throughout both kidneys, most likely representing angiomyolipomas, associated with TS, the largest measured 3.5 x 2.5 cm; CT scan of kidneys revealed innumerable low density lesions thought out both kidneys, consistent with angiomyolipomas; MRI of the head showed findings consistent with residual or recurrent tumor in the region of the foramen of Monro (subependymal giant cell astrocytoma); son of GM08584; donor subject has a 1 bp insertion at nucleotide 2468 in exon 21 of the TSC2 gene (2468insT) causing a frameshift (Leu823fsX882)
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: TSC2
Disease疾病类型:
Mutations突变: 2468insT
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
http://www.biovector.net