Name：NTCC? NA04250 Fibroblast DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA04250
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: 2 YR
Gender性別: Female
Description描述: RETINOBLASTOMA, SPORADIC
Remarks: Clinically affected; diagnosed at 3 months of age with bilateral retinoblastoma; poor weight gain, weak sucking, cyanosis, and abnormal eye movement; slight normochromic anemia; developmental retardation; gross ophthalmological exam revealed leukocoria and sluggish pupillary light response in right eye; detailed exam of the right fundus showed a solid tumor with total retinal detachment, and the left fundus showed two elevated tumor masses; histological examination of the enucleated right eye revealed a well-differentiated retinoblastoma with focal necrosis and numerous rosette formation; procedures include: enucleation of right eye, transscleral cryocoagulation of the left eye, photocoagulation, and radiation; translocation of the long arm of chromosome 13 to the short arm of the X chromosome, karyotype: 46,XX,t(X;13)(p22; q13) in leukocytes; translocated X found to be preferentially inactivated in skin fibroblasts with the inactivation spreading over the translocated chromosome 13; chromosome studies of the parents and sibling revealed no abnormalities; erythrocyte esterase D type 1-1 identified in the proband, sibling and both parents.
Alternate IDs其他編號:
Cell Type細胞類型: Fibroblast
Source組織來源: Fibroblast
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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