NTCC® NA00046 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA00046

Name：NTCC® NA00046 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA00046
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: 3 YR
Gender性别: Male
Description描述: CYSTINOSIS, NEPHROPATHIC; CTNS | CYSTINOSIN; CTNS
Remarks: Increased intracellular cystine in fibroblasts; donor subject is hemizygous for a 5-bp deletion at nucleotide 545 in exon 5 of the CTNS gene [545delTCCTT] resulting in a substitution of arginine for isoleucine at codon 69 [Ile69Arg (I69R)] which causes a termination at codon 73; results from targeted next generation sequencing using human genome version hg19 and confirmation by Sanger sequencing indicate that donor subject is hemizygous for mutations in the CTNS gene, allele 1: p.I69Rfs*5/c.206_210delTCCTT, allele 2: 57 kb deletion (exons 1-10), Zykovich et al. Molecular Genetics and Metabolism Reports 5 (2015) 63-66.
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: 5-BP DEL, NT545 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