Name：NTCC? NA03577 Fibroblast DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA03577
Size/Quantity數量: 1 Vial
Biosafety Level生物安全級別:1
Shipping Info運輸方式: RT
Storage儲存方式: 4C
Species物種來源:
Age年齡: 8 MO
Gender性別: 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其他編號:
Cell Type細胞類型: Fibroblast
Source組織來源: Fibroblast
Gene:
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Mutation description突變描述:
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References參考文獻:

Supplier供應商:
BioVector質粒載體菌株細胞蛋白抗體基因保藏中心
NTCC典型培養物保藏中心
Tel電話：400-800-2947
Email：Biovector@163.com
http://www.biovector.net