NTCC® NA03577 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA03577

Name：NTCC® NA03577 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA03577
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: 8 MO
Gender性别: Male
Description描述: DIGEORGE SYNDROME; DGS | TRANSLOCATED CHROMOSOME
Remarks: Clinically affected; unbalanced chromosome translocation and DiGeorge syndrome; recurrent episodes of otitis media; absent thymus; absent parathyroid glands; bilateral cleft lip and palate; bifid uvula; hypertelorism; ears are large, low-set, scooped out and anteriorly displaced with poorly formed ear lobes; beaked nose with flattening of the nasal bridge; absent philtrum; flattened chest; widely spaced nipples; external rotation of lower extremities; sacrococcygeal dimple; heart abnormalities as seen on autopsy include transposition of the great vessels, atresia of pulmonary valve, right aortic arch, right thoracic descending aorta, ventricular septal defect, atrial septal defect in position of the foramen ovale; brain findings on autopsy include malformation of cerebral lobes, with shortening of the anterior frontal and temporal lobes; peripheral lymph nodes with hypoplastic paracortical zones; small kidneys with some sclerosed glomeruli and foci of lymphocytic infiltration in the subcapsular renal cortex; extensive metastatic calcification of the kidneys; focal calcification of the media of the aorta and pulmonary artery.
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene:
Disease疾病类型:
Mutations突变:
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Cytogenetics:
Mutation description突变描述:
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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