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
- 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 DNACategory分类:DNACat#货号:NTCC®-Coriell NA08684Size/Quantity数量: 1 VialBiosafety Level生物安全级别:1Shipping Info运输方式: RTStorage储存方式: 4CSpecies物种来源: Age年龄: 1 YRGender性别: FemaleDescription描述: ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD | ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN; ACADMRemarks: 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>GAlternate IDs其他编号: Cell Type细胞类型:
FibroblastSource组织来源: FibroblastGene: ACADM Disease疾病类型: Mutations突变: CYS116TYR LYS304GLUKaryotypes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
- 公告/新闻