首页 » NTCC® NA08684 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA08684

NTCC® NA08684 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA08684

  • 价  格:¥59850
  • 货  号:NTCC®-Coriell NA08684
  • 产  地:北京
点击询问我要采购
 竭诚为您服务!
BioVector NTCC典型培养物保藏中心
联系人:Dr.Xu, Biovector NTCC Inc.

电话:400-800-2947 工作QQ:1843439339 (微信同号)

邮件:Biovector@163.com

手机:18901268599

地址:北京

已注册
 
Name:NTCC® NA08684 Fibroblast DNA
Category分类:DNA
Cat#货号:NTCC®-Coriell NA08684
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: 1 YR
Gender性别: Female
Description描述: ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD | ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN; ACADM
Remarks: Clinically affected; recurrent episodes of vomiting, diarrhea, hypoglycemia, failure of ketosis, coma, and low plasma carnitine levels; deficient fibro medium-chain Acyl CoA dehydrogenase activity; donor subject is a compound heterozygote: one allele has an A>G transition at nucleotide 985 in exon 11 of the ACADM (MCAD) gene (c.985A>G) resulting in a substitution of glutamic acid for lysine at codon 304 [Lys304Glu (K304E)also known as K329E] and the second allele has a G>A transition at nucleotide 347 in exon 5 (c.347G>A) resulting in a substitution of tyrosine for cysteine at codon 116 [Cys116Tyr (C116Y)also known as C91Y]; donor subject is also heterozygous for the following polymorphisms: c.-34T>C (5 prime UTR), IVS2-20T>C, IVS3+10T>C, c.351A>C (p.T117), and IVS5+32C>G
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: ACADM
Disease疾病类型:
Mutations突变: CYS116TYR LYS304GLU
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

您正在向 biovector.net  发送关于产品 NTCC® NA08684 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA08684 的询问

点击“立即发送”后,我们将在1个工作日内与您取得联系。