NTCC® NA18422 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA18422

Name：NTCC® NA18422 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA18422
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: Female
Description描述: NIEMANN-PICK DISEASE, TYPE C1; NPC1 | NPC1 GENE; NPC1
Remarks: Clinically affected; fibroblasts showed 48 pmol CE/mg protein/6 hr activity in a cholesterol esterification assay [normal mean was 1855 +/- 1327 pmol CE/mg protein/6 hr, see Park et al. Hum Mut 22:313-325 (2003)]; fibroblasts were scored as npc-like in a filipin staining assay (see Park et al., 2003); a complementation test showed that the cells were type 1 (see Park et al., 2003); the donor subject is a compound heterozygote at the NPC1 gene locus: allele 1 carries an in-frame deletion (delCAT) at nucleotide 813-815 (c.813_815delCAT) in exon 6, resulting in a deletion of codon 271 [I271del (ILE271del)]; allele 2 carries a substitution (A>T) at nucleotide 2621A>T (c.2621A>T) in exon 18, resulting in a missense mutation at codon 874 [D874V (ASP874VAL)]; the first nucleotide of the initiating MET codon is numbered +1.
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: NPC1
Disease疾病类型:
Mutations突变: 813_815delCAT ASP874VAL
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