NTCC® NA04520 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA04520

Name：NTCC® NA04520 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA04520
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: 15 YR
Gender性别: Female
Description描述: TUBEROUS SCLEROSIS 2; TSC2 | TSC2 GENE; TSC2
Remarks: Clinically affected; seizures since age 4; mild mental retardation; adenoma sebaceum; hypopigmented macules on right flank and right distal thigh; cerebral calcifications on EMI scan; donor subject has a large deletion of exons 1 through 14 in the TSC2 gene resulting in no transcription of the normal TSC2 gene due to the deleted exon 1; polymorphisms in TSC1 include 965T>C, 1335A>G, and 1440C>T; polymorphisms in the TSC2 gene include 4272C>T, 5202T>C, and 5259+72C>T; same donor as GM04519 lymphocyte.
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: TSC2
Disease疾病类型:
Mutations突变: DEL EX1-14
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