Name：NTCC? NA09377 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA09377
Size/Quantity數量: 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: 30 YR
Gender性別: Female
Description描述: TUBEROUS SCLEROSIS 2; TSC2 | TSC2 GENE; TSC2
Remarks: Clinically affected; angiofibroma, ash leaf spots, CAT scan evidence of cerebral calcification, & skin tags on neck; daughter of GM09373; 2 children are also affected; donor subject has a 4 bp deletion at nucleotide 3693 in exon 30 of the TSC2 gene (3693delGTCT) causing a frameshift and premature termination (Leu1231fsX1323)
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: c.3693_3696delGTCT
Karyotypes核型:
Cytogenetics:
Mutation description突變描述:
Origin:
Transformants:
Alias別名:
Images圖片:
References參考文獻:

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