NTCC® NA18397 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA18397

Name：NTCC® NA18397 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA18397
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 C1; NPC1 | NPC1 GENE; NPC1
Remarks: Clinically affected; fibroblasts showed 127 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 a substitution (A>G) at nucleotide 3467 (c.3467A>G) in exon 22, resulting in a missense mutation at codon 1156 [N1156S (ASN1156SER)]; allele 2 carries a substitution (A>G) at nucleotide 3557 (c.3557A>G) in exon 23, resulting in a missense mutation at codon 1186 [R1186H(ARG1186HIS)]; the first nucleotide of the initiating MET codon is numbered +1. 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: NPC1
Disease疾病类型:
Mutations突变: ARG1186HIS ASN1156SER
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