NTCC® NA02548 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA02548

Name：NTCC® NA02548 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA02548
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: 6 YR
Gender性别: Male
Description描述: BLOOM SYNDROME; BLM | RECQ PROTEIN-LIKE 3; RECQL3
Remarks: Clinically affected; B.S. Registry #71; increased sister chromatid exchange; increased post UV irradiation unscheduled DNA synthesis; donor subject is a compound heterozygote: one allele has a 1-bp insertion at nucleotide 1544 of the RECQL3 gene [1544insA] resulting in a frameshift and premature termination [fs:514+1-X] and a second allele has a C>T transition at nucleotide 2328 of the RECQL3 gene [2328C>T] resulting in a substitution of a termination codon for glutamine at codon 752 [Gln752Ter (Q752X)].
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: RECQL3
Disease疾病类型:
Mutations突变: 1544insA GLN752TER
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