NTCC® NA03756 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA03756

Name：NTCC® NA03756 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA03756
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: 44 YR
Gender性别: Male
Description描述: DYSTROPHIA MYOTONICA 1; DM1 | DYSTROPHIA MYOTONICA PROTEIN KINASE; DMPK | 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR
Remarks: Typical phenotype; mother, 2 brothers, and a sister are also affected; see GM03755 Fibroblast; expansion of CTG repeat is <1.5 kb detectable by Southern analysis corresponding to up to 500 CTG repeats; heterozygous for a C-to-T substitution at nucleotide 677 that converts an alanine to a valine residue in the methylenetetrahydrofolate reductase (MTHFR) gene (677C-T)
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: DMPK MTHFR
Disease疾病类型:
Mutations突变: (CTG)n EXPANSION 677C>T
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