NTCC® NA00559 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA00559

Name：NTCC® NA00559 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA00559
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: 25 YR
Gender性别: Female
Description描述: NIEMANN-PICK DISEASE, TYPE A | SPHINGOMYELIN PHOSPHODIESTERASE 1, ACID LYSOSOMAL; SMPD1
Remarks: Ashkenazi; clinically unaffected; positive family history; about 20% of normal sphingomyelinase activity and increased cholesterol biosynthesis in fibroblasts; parent of a child with type A; proband not in Repository; donor subject is heterozygous for a deletion of a single cytosine in exon 2 at codon 330 [990delC (which normally encodes a proline residue)] resulting in a frameshift leading to the formation of a premature stop (TGA) at codon 382 (1-BP DEL, Pro330FS) of the SMPD1 gene.
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: SMPD1
Disease疾病类型:
Mutations突变: 1-BP DEL, PRO330FS
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