NTCC® NA20019 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA20019

Name：NTCC® NA20019 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA20019
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: Female
Description描述: FARBER LIPOGRANULOMATOSIS
Remarks: Clinically affected; collected in Germany in a community of mixed ethnicity; mild disease (Farber disease subtype 3); donor subject is a compound heterozygote: one allele has a G>A transition at nucleotide 991 in exon 12 of the ASAH gene [991G>A] resulting in a substitution of asparagine for aspartic acid at codon 331 [Asp331Asn(D331N)] and a second allele has a G>T transversion at nucleotide 412 in exon 6 of the ASAH gene [412G>T] resulting in a deletion of amino acids 128 to 152 (exon 6) [del 128-152].
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: ASAH
Disease疾病类型:
Mutations突变: 412G>T ASP331ASN
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