NTCC® NA18455 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA18455

Name：NTCC® NA18455 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA18455
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:
Gender性别: Male
Description描述: NIEMANN-PICK DISEASE, TYPE C2 | NPC2 GENE; NPC2
Remarks: Clinically affected; the donor subject is a compound heterozygote at the NPC2 gene locus: allele 1 carries a substitution (G>T) at nucleotide 58 (c.58G>T) in exon 1, resulting in a nonsense mutation at codon 20 [E20X (GLU20TER)]; allele 2 carries a substitution (G>T) at nucleotide 140 (c.140G>T) in exon 2, resulting in a missense mutation at codon 47 [C47F (CYS47PHE)]; the first nucleotide of the initiating MET codon is numbered +1; fibroblasts showed no detectable activity in a cholesterol esterification assay; a complementation test showed that the cells were type 2 [see Park et al. Hum Mut 22:313-325 (2003)]. This fibroblast is a characteristically poor grower and will only be shipped frozen; requires particular care during growth; the recommended seeding density is 15,000 to 20,000 cells per cm2.
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: NPC2
Disease疾病类型:
Mutations突变: CYS47PHE GLU20TER
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