NTCC® NA16394 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA16394

Name：NTCC® NA16394 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA16394
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: Male
Description描述: GLUTARICACIDEMIA I | GLUTARYL-COA DEHYDROGENASE; GCDH
Remarks: Clinically affected; the donor subject is a compound heterozygote; one allele carries a C-to-A transition (CGC>AGC) at nucleotide 298 (c.262) in exon 3 of the GCDH gene which results in a substitution of serine for arginine at codon 88 [ARG88SER (R88S)]; the second allele carries a C-to-T transition (CGG>TGG) at nucleotide 1204 in exon 10 of the GCDH gene which results in a substitution of tryptophan for arginine at codon 402 [ARG402TRP (R402W)].
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: GCDH
Disease疾病类型:
Mutations突变: ARG402TRP ARG88SER
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