Name：NTCC? NA00559 Fibroblast DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA00559
Size/Quantity數量: 1 Vial
Biosafety Level生物安全級別:1
Shipping Info運輸方式: RT
Storage儲存方式: 4C
Species物種來源:
Age年齡: 25 YR
Gender性別: 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其他編號:
Cell Type細胞類型: Fibroblast
Source組織來源: Fibroblast
Gene: SMPD1
Disease疾病類型:
Mutations突變: 1-BP DEL, PRO330FS
Karyotypes核型:
Cytogenetics:
Mutation description突變描述:
Origin:
Transformants:
Alias別名:
Images圖片:
References參考文獻:

Supplier供應商:
BioVector質粒載體菌株細胞蛋白抗體基因保藏中心
NTCC典型培養物保藏中心
Tel電話：400-800-2947
Email：Biovector@163.com
http://www.biovector.net