Name：NTCC? NA08299 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA08299
Size/Quantity數(shù)量: 1 Vial
Biosafety Level生物安全級別:1
Shipping Info運輸方式: RT
Storage儲存方式: 4C
Species物種來源:
Age年齡: 37 YR
Gender性別: Female
Description描述: TUBEROUS SCLEROSIS 2; TSC2 | TSC2 GENE; TSC2
Remarks: Clinically affected; hype; shagreen patches; CT scan of brain revealed multiple ependymal throughout the cerebral ventricular system, consistent with TS; CT of the abdomen showed probable angiomyolipomata in the liver and both kidneys; renal ultrasound showed numerous bilateral echogenic masses throughout both kidneys, most likely representing angiomyolipomas, associated with TS; 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; family history of tuberous sclerosis; daughter of GM08584; half-sister of GM08296 (affected); mother of GM08300 (affected); donor subject has a 1 bp insertion at nucleotide 2468 in exon 21 of the TSC2 gene (2468insT) causing a frameshift (Leu823fsX882)
Alternate IDs其他編號:
Cell Type細胞類型: LCL
Source組織來源: LCL
Gene: TSC2
Disease疾病類型:
Mutations突變: 2468insT
Karyotypes核型:
Cytogenetics:
Mutation description突變描述:
Origin:
Transformants:
Alias別名:
Images圖片:
References參考文獻:

Supplier供應(yīng)商:
BioVector質(zhì)粒載體菌株細胞蛋白抗體基因保藏中心
NTCC典型培養(yǎng)物保藏中心
Tel電話：400-800-2947
Email：Biovector@163.com
http://www.biovector.net