NTCC® NA08369 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA08369

Name：NTCC® NA08369 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA08369
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: 17 YR
Gender性别: Male
Description描述: HEMOPHILIA B; HEMB | 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR
Remarks: Factor IX deficiency diagnosed at age 15 mos; Factor IX level <1%; hemarthroses involving multiple joints & a massive intramuscular hematoma; prolonged PPT; mother & 2 sisters have normal Factor IX levels; donor subject is heterozygous for a C>T mutation at nucleotide 677 in exon 4 of the methylenetetrahydrofolate reductase (MTHFR) gene [677C>T] that results in a substitution of a valine for an alanine at codon 222 [Ala222Val (A222V)]; donor subject is homozygous normal for the R506Q mutation in the F5 gene and for the 20210G>A variant in the prothrombin gene (F2)
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: MTHFR
Disease疾病类型:
Mutations突变: 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