NTCC® NA09341 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA09341

Name：NTCC® NA09341 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA09341
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: 26 YR
Gender性别: Male
Description描述: TUBEROUS SCLEROSIS 2; TSC2 | TSC2 GENE; TSC2
Remarks: Clinically affected maternal cousin of GM09432; hypomelanotic skin macules (white spots or white skin freckles) were the only manifestation of tuberous sclerosis in this individual; member of a four generation family [family TS-15 in Smith et al. Genomics 6:105-114 (1990)] with 24 cases of tuberous sclerosis, some with only a mild form of the disease; donor subject carries a missense mutation in the GTPase activating protein homology region of the TSC2 gene due to an A-to-C transversion (CAG>CCG) at nucleotide position 4508 (4508A>C) which results in the substitution of proline for glutamine [GLN1503PRO (Q1503P)] at codon 1503 in exon 34
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: GLN1503PRO
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
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