NTCC® NA03124 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA03124

Name：NTCC® NA03124 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA03124
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: 9 YR
Gender性别: Female
Description描述: NIEMANN-PICK DISEASE, TYPE C1; NPC1 | NPC1 GENE; NPC1
Remarks: 38% of normal sphingomyelinase activity, normal B-galactosidase activity, and impaired cholesterol esterification in fibroblasts; the donor subject is a compound heterozygote; one allele carries a pathogenic splice site mutation c.1947+5G>C (rs770321568, g.41940G>C), as well as a missense mutation c.709C>T [p.Pro237Ser (P237S); rs80358251] in exon 6 of the NPC1 gene; the second allele carries a pathogenic missense mutation c.3182T>C in exon 21 [p.Ile1061Thr (I1061T)] in a transmembrane domain; same subject as GM03123 (fibroblast) and GM25864 (stem cell).
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: NPC1
Disease疾病类型:
Mutations突变: c.1947+5G>C ILE1061THR PRO237SER
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