NTCC® NA03252 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA03252

Name：NTCC® NA03252 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA03252
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: 21 FW
Gender性别: Female
Description描述: NIEMANN-PICK DISEASE, TYPE A | SPHINGOMYELIN PHOSPHODIESTERASE 1, ACID LYSOSOMAL; SMPD1
Remarks: 2% of normal sphingomyelinase activity and deficient phospholipase C activity in fibroblasts; similarly affected brother; type B; donor is a compound heterozygote: one allele with a T>C transition at nucleotide 905 in exon 2 of the SMPD1 gene [905T>C] resulting in a substitution of proline for leucine at codon 302 [Leu302Pro (L302P)]; other allele carries an uncharacterized mutation. Submission previously diagnosed as Neimann-Pick Disease, Type B; further genetic testing confirmed Niemann-Pick Disease, Type A mutation.
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: LEU302PRO
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