NTCC® NA10309 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA10309

Name：NTCC® NA10309 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA10309
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: 4 MO
Gender性别: Male
Description描述: HOLOCARBOXYLASE SYNTHETASE DEFICIENCY | HOLOCARBOXYLASE SYNTHETASE; HLCS
Remarks: Metabolic acidosis; organic acidemia; deficient fibroblast pyruvate carboxylase, propionyl CoA carboxylase, & 3-methylcrotonyl CoA carboxylase activity; biotin responsive; donor subject is a compound heterozygote: one allele has a G>A transition at nucleotide 1648 of the HLCS gene (c.1648G>A) resulting in the substitution of methionine for valine at codon 550 [Val550Met (V550M)]and a second allele has a C>T change at nucleotide 1980 (c.1980C>T) resulting in a premature termination at codon 565 [Arg565Ter (R565X)]
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: HLCS
Disease疾病类型:
Mutations突变: ARG565TER VAL550MET
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