NTCC® NA02135 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA02135

Name：NTCC® NA02135 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA02135
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: 34 YR
Gender性别: Female
Description描述: PORPHYRIA, ACUTE INTERMITTENT | HYDROXYMETHYLBILANE SYNTHASE; HMBS
Remarks: See GM00939 Fibroblast; deficient uroporphyrinogen-I synthetase; active AIP; Neutral Alpha-glucosidase C phenotype=1; positive family history; donor subject is heterozygous for a C>T transition at nucleotide 583 in exon 10 of the HMBS gene (583C>T) resulting in the substitution of cysteine for arginine at codon 195 [Arg195Cys (R195C)]
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: HMBS
Disease疾病类型:
Mutations突变: ARG195CYS
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