NTCC® NA17885 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA17885

Name：NTCC® NA17885 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA17885
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: 9 YR
Gender性别: Female
Description描述: CYSTINOSIS, NEPHROPATHIC; CTNS | CYSTINOSIN; CTNS
Remarks: Clinically affected; photophobia; corneal crystals; renal tubular Fanconi syndrome; proteinuria; glucosuria; generalized aminoaciduria; elevated white blood cell cystine; successful early treatment; similarly affected sister; donor subject is a compound heterozygote: one allele has a 57 kb deletion of exons 1 through 10 of the CTNS gene causing the elimination of expression of the protein and the second allele carries a 1261G>A mutation in exon 11 resulting in a Gly308-to-Arg substitution [Gly308Arg (G308R)]; Zykovich et al. Molecular Genetics and Metabolism Reports 5 (2015) 63-66 confirmed these mutations with targeted next generation sequencing using human genome version hg19 and Sanger sequencing.
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: CTNS
Disease疾病类型:
Mutations突变: 1261G>A 57-KB DEL
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