NTCC® NA16882 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA16882

Name：NTCC® NA16882 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA16882
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: Female
Description描述: BLOOM SYNDROME; BLM | RECQ PROTEIN-LIKE 3; RECQL3
Remarks: Clinically affected; B.S. Registry # 26; born at term; birth weight = 2,229 grams; at age 1.3 years: weight = 6.3 kg, height = 66 cm; at age 1 year head circumference = 40.8 cm; sun sensitive facial telangiectasias; sacral dimple; elevated chromosome breakage; elevated sister chromosome exchange level; one affected sister; donor is a compound heterozygote: one allele has a 1-bp deletion at nucleotide 3261 of the RECQL3 gene [3261delT] and a second allele has 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.
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: 3261delT 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