NTCC® NA05002 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA05002

Name：NTCC® NA05002 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA05002
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: 2 YR
Gender性别: Male
Description描述: GLUTARICACIDEMIA I
Remarks: Delayed motor & mental development, dystonia, spasticity, choreoathetosis, & metabolic acidosis; deficient glutarylCoA dehydrogenase activity; negative family history; donor subject is a compound heterozygote: one allele has a G>A transition at nucleotide 344 in exon 5 of the GCDH gene (C.344G>A) resulting in the substitution of tyrosine for cysteine at codon 115 [Cys115Tyr (C115Y)]; and the second allele has a C>T transition at nucleotide 743 in exon 7 (c.743C>T) resulting in a substitution of leucine for proline at codon 248 [Pro248Leu (P248L)]
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: CYS115TYR PRO248LEU
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