NTCC® NA16881 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA16881

Name：NTCC® NA16881 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA16881
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: 31 YR
Gender性别: Male
Description描述: BLOOM SYNDROME; BLM | RECQ PROTEIN-LIKE 3; RECQL3
Remarks: Clinically affected; B. S. Registry # 6; born at term; birth weight = 2,116 grams; at age 18 years; weight = 35 kg, height = 143 cm; sun sensitive facial telangiectasias; cafe-au-lait spots; squamous cell carcinoma of the epiglottis; disseminated lymphoma; died at age 30; elevated sister chromatid exchange; increased chromosome breakage; culture established from skin specimen taken at autopsy; donor subject is homozygous for a 1-bp deletion at nucleotide 2923 of the RECQL3 gene [2923delC] resulting in a frameshift [fs:974+23-X].
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: 2923delC
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