NTCC® NA16195 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA16195

Name：NTCC® NA16195 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA16195
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 A | SPHINGOMYELIN PHOSPHODIESTERASE 1, ACID LYSOSOMAL; SMPD1
Remarks: Clinically affected; organomegaly; neurological involvement; deceased; Type A; acid sphingomyelinase enzyme levels <1% of controls; the donor subject is homozygous for a T-to-C transition at nucleotide 905 (CTT>CCT) of the SPMD1 gene, resulting in a leucine-to-proline substitution at codon 302 [LEU302PRO (L302P)]; same subject as GM27463 (iPSC).
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