NTCC® NA02932 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA02932

Name：NTCC® NA02932 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA02932
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: 28 YR
Gender性别: Male
Description描述: BLOOM SYNDROME; BLM | RECQ PROTEIN-LIKE 3; RECQL3
Remarks: Clinically affected; B.S. Registry #3; born at term; birth weight = 1,760 grams; at age 17 years: weight = 55.5 kg, height = 161.3 cm; sun sensitive facial telangiectasias; undescended testes; acanthosis nigricans; diabetes mellitus; chromosomal breakage; increased sister chromatid exchange in fibroblasts; increased post UV irradiation unscheduled DNA synthesis; donor subject is homozygous for a 6-bp deletion/7-bp insertion [6-bp del/7-bp ins] at nucleotide 2,281 of the open reading frame of the RECQL3 gene, which results in a frameshift and a stop codon; same donor as GM00811.
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: 6-BP DEL/7-BP INS
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