NTCC® NA11576 Amniotic fluid-derived cell line DNA-BioVector NTCC典型培养物保藏中心Coriell NA11576

Name：NTCC® NA11576 Amniotic fluid-derived cell line DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA11576
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: 16 FW
Gender性别: Female
Description描述: HOLOCARBOXYLASE SYNTHETASE DEFICIENCY | HOLOCARBOXYLASE SYNTHETASE; HLCS
Remarks: Amniocytes have <1% of control holocarboxylase synthetase activity; pyruvate carboxylase, propionyl CoA carboxylase, & 3-methylcrotonyl CoA carboxylase enzyme activities were also very low; 2 affected sibs; slow growing culture; donor subject is a compound heterozygote: one allele has a IVS10+5G>A mutation in the HCLS gene and a second allele has a proline for leucine substitution at codon 514 [Leu514Pro (L514P)]
Alternate IDs其他编号:
Cell Type细胞类型: Amniotic fluid-derived cell line
Source组织来源: Amniotic fluid-derived cell line
Gene: HLCS
Disease疾病类型:
Mutations突变: IVS10+5G>A LEU514PRO
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