NTCC® NA05289 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA05289

Name：NTCC® NA05289 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA05289
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: 5 YR
Gender性别: Female
Description描述: BLOOM SYNDROME; BLM | RECQ PROTEIN-LIKE 3; RECQL3
Remarks: Clinically affected; B.S. Registry #86; birth weight = 1,920 grams; birth length = 43.5 cm; at age 11 months: weight = 5,290 grams, height = 63.5 cm; small face with hypoplastic malar bone; prominent ears; retruded mandible; high-pitched, squeaky voice; multiple cafe-au-lait spots; depigmented flecks; short stature; facial telangiectasias; photosensitivity; IgA and IgM deficiency; normal serum levels of IgG; increased sister chromatid exchange; chromosome gaps and breaks; donor subject is homozygous for a 1-bp insertion at nucleotide 1544 [1544insA] of the RECQL3 gene resulting in a frameshift and premature termination [fs:514+1-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: 1544insA
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